2-234394454-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394454
    reference: chr 2
allele count: 1
allele frequency: 9.160529112161519e-6
allele num: 109164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.528T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.267T>A
  hgvsp: ENSP00000394133.1:p.Tyr90Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.512T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.563T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3364T>A
  hgvsp: ENSP00000251722.6:p.Tyr1122Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3364T>A
  hgvsp: ENSP00000387898.2:p.Tyr1122Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3400T>A
  hgvsp: ENSP00000415434.1:p.Tyr1134Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*251T>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr1134Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234394456-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394456
    reference: chr 2
allele count: 1
allele frequency: 9.156335268372187e-6
allele num: 109214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3362A>C
  hgvsp: ENSP00000251722.6:p.Lys1121Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.510A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3398A>C
  hgvsp: ENSP00000415434.1:p.Lys1133Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.265A>C
  hgvsp: ENSP00000394133.1:p.Lys89Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*249A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.526A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.561A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3362A>C
  hgvsp: ENSP00000387898.2:p.Lys1121Thr
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys1133Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-234394459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394459
    reference: chr 2
allele count: 1
allele frequency: 9.191345429143918e-6
allele num: 108798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3395C>T
  hgvsp: ENSP00000415434.1:p.Ala1132Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3359C>T
  hgvsp: ENSP00000387898.2:p.Ala1120Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.523C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.507C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.262C>T
  hgvsp: ENSP00000394133.1:p.Ala88Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3359C>T
  hgvsp: ENSP00000251722.6:p.Ala1120Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.558C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1132Val
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-234394462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394462
    reference: chr 2
allele count: 1
allele frequency: 9.206068640447784e-6
allele num: 108624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.555T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.504T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.259T>C
  hgvsp: ENSP00000394133.1:p.Ile87Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.520T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*243T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3392T>C
  hgvsp: ENSP00000415434.1:p.Ile1131Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3356T>C
  hgvsp: ENSP00000251722.6:p.Ile1119Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3356T>C
  hgvsp: ENSP00000387898.2:p.Ile1119Thr
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1131Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-234394468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394468
    reference: chr 2
allele count: 39
allele frequency: 3.611445504213353e-4
allele num: 107990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*237T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.498T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3386T>C
  hgvsp: ENSP00000415434.1:p.Ile1129Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.253T>C
  hgvsp: ENSP00000394133.1:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3350T>C
  hgvsp: ENSP00000387898.2:p.Ile1117Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3350T>C
  hgvsp: ENSP00000251722.6:p.Ile1117Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.549T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.514T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21887
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile1129Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-234394471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394471
    reference: chr 2
allele count: 1
allele frequency: 9.310120100549296e-6
allele num: 107410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3347A>G
  hgvsp: ENSP00000251722.6:p.Lys1116Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.495A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.250A>G
  hgvsp: ENSP00000394133.1:p.Lys84Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.511A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3347A>G
  hgvsp: ENSP00000387898.2:p.Lys1116Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3383A>G
  hgvsp: ENSP00000415434.1:p.Lys1128Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.546A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys1128Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-234394478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394478
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394478
    reference: chr 2
allele count: 16
allele frequency: 1.506109155261028e-4
allele num: 106234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.539G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3340G>A
  hgvsp: ENSP00000387898.2:p.Val1114Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.504G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.243G>A
  hgvsp: ENSP00000394133.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.488G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3340G>A
  hgvsp: ENSP00000251722.6:p.Val1114Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3376G>A
  hgvsp: ENSP00000415434.1:p.Val1126Met
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19715
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1126Met
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-234394479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394479
    reference: chr 2
allele count: 5
allele frequency: 4.715468623271781e-5
allele num: 106034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*226C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3339C>T
  hgvsp: ENST00000427112.2:c.3339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.487C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.242C>T
  hgvsp: ENST00000454354.1:c.242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3375C>T
  hgvsp: ENST00000450966.1:c.3375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.503C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3339C>T
  hgvsp: ENST00000251722.6:c.3339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.538C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1125Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

2-234394486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394486
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394486
    reference: chr 2
allele count: 5
allele frequency: 4.785238496286655e-5
allele num: 104488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*219G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.531G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.496G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.235G>A
  hgvsp: ENSP00000394133.1:p.Arg79His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3332G>A
  hgvsp: ENSP00000387898.2:p.Arg1111His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3368G>A
  hgvsp: ENSP00000415434.1:p.Arg1123His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3332G>A
  hgvsp: ENSP00000251722.6:p.Arg1111His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.480G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15458
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1123His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-234394487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394487
    reference: chr 2
allele count: 37303
allele frequency: 3.539788578694654e-1
allele num: 105382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.530C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3331C>T
  hgvsp: ENSP00000387898.2:p.Arg1111Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.479C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3331C>T
  hgvsp: ENSP00000251722.6:p.Arg1111Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.234C>T
  hgvsp: ENSP00000394133.1:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3367C>T
  hgvsp: ENSP00000415434.1:p.Arg1123Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.495C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 2305
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 7.5e0
  variant carriers: 773
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 374
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 1088
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 2.75e1
  variant carriers: 4572
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 1.75e1
  variant carriers: 6687
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.25e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 2.25e1
  variant carriers: 6968
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 1.25e1
  variant carriers: 3711
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 536
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 321
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.75e1
  variant carriers: 1219
genotype quality: GenotypeQuality
  all individuals: 9047
  bin: 2.25e1
  variant carriers: 208
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 2.75e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 5.75e1
  variant carriers: 395
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 485
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 583
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 353
hgvs: p.Arg1123Cys
num of homozygotes: 6816
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-234394488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394488
    reference: chr 2
allele count: 3
allele frequency: 3.069744597249509e-5
allele num: 97728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.494T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3330T>C
  hgvsp: ENST00000251722.6:c.3330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3330T>C
  hgvsp: ENST00000427112.2:c.3330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.233T>C
  hgvsp: ENST00000454354.1:c.233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*217T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3366T>C
  hgvsp: ENST00000450966.1:c.3366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.478T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.529T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8911
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr1122Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS

2-234394489-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394489
    reference: chr 2
allele count: 151
allele frequency: 1.551199868507561e-3
allele num: 97344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*216A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.232A>G
  hgvsp: ENSP00000394133.1:p.Tyr78Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3365A>G
  hgvsp: ENSP00000415434.1:p.Tyr1122Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.477A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3329A>G
  hgvsp: ENSP00000387898.2:p.Tyr1110Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3329A>G
  hgvsp: ENSP00000251722.6:p.Tyr1110Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.528A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.493A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14052
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr1122Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-234394496-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394496
    reference: chr 2
allele count: 2
allele frequency: 2.11519343443958e-5
allele num: 94554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.470G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.486G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3358G>T
  hgvsp: ENSP00000415434.1:p.Asp1120Tyr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3322G>T
  hgvsp: ENSP00000251722.6:p.Asp1108Tyr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*209G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.521G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3322G>T
  hgvsp: ENSP00000387898.2:p.Asp1108Tyr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.225G>T
  hgvsp: ENSP00000394133.1:p.Asp76Tyr
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp1120Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-234394496-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394496
    reference: chr 2
allele count: 1
allele frequency: 1.05759671721979e-5
allele num: 94554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3322G>C
  hgvsp: ENSP00000387898.2:p.Asp1108His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.486G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3358G>C
  hgvsp: ENSP00000415434.1:p.Asp1120His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3322G>C
  hgvsp: ENSP00000251722.6:p.Asp1108His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.470G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.225G>C
  hgvsp: ENSP00000394133.1:p.Asp76His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*209G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.521G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1120His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-234394496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394496
    reference: chr 2
allele count: 3
allele frequency: 3.172790151659369e-5
allele num: 94554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.486G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.521G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3322G>A
  hgvsp: ENSP00000251722.6:p.Asp1108Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.225G>A
  hgvsp: ENSP00000394133.1:p.Asp76Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3322G>A
  hgvsp: ENSP00000387898.2:p.Asp1108Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3358G>A
  hgvsp: ENSP00000415434.1:p.Asp1120Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.470G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1120Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234394497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394497
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394497
    reference: chr 2
allele count: 7
allele frequency: 7.414625879162783e-5
allele num: 94408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.469C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3321C>T
  hgvsp: ENST00000427112.2:c.3321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3357C>T
  hgvsp: ENST00000450966.1:c.3357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3321C>T
  hgvsp: ENST00000251722.6:c.3321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.224C>T
  hgvsp: ENST00000454354.1:c.224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.520C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.485C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15620
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1119Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

2-234394499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394499
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394499
    reference: chr 2
allele count: 1
allele frequency: 1.072754189105109e-5
allele num: 93218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.467G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.222G>A
  hgvsp: ENSP00000394133.1:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*206G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3319G>A
  hgvsp: ENSP00000251722.6:p.Ala1107Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3355G>A
  hgvsp: ENSP00000415434.1:p.Ala1119Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3319G>A
  hgvsp: ENSP00000387898.2:p.Ala1107Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.483G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.518G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16189
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1119Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-234394506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394506
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394506
    reference: chr 2
allele count: 1
allele frequency: 1.09887694775939e-5
allele num: 91002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3312G>A
  hgvsp: ENST00000427112.2:c.3312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3348G>A
  hgvsp: ENST00000450966.1:c.3348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.476G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.215G>A
  hgvsp: ENST00000454354.1:c.215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*199G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3312G>A
  hgvsp: ENST00000251722.6:c.3312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.460G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.511G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1116Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-234394510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394510
    reference: chr 2
allele count: 1
allele frequency: 1.130147823335292e-5
allele num: 88484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.507G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3308G>A
  hgvsp: ENSP00000251722.6:p.Arg1103Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.211G>A
  hgvsp: ENSP00000394133.1:p.Arg71Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.472G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3308G>A
  hgvsp: ENSP00000387898.2:p.Arg1103Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.456G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3344G>A
  hgvsp: ENSP00000415434.1:p.Arg1115Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*195G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1115Lys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234394518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394518
    reference: chr 2
allele count: 1
allele frequency: 1.168415395041245e-5
allele num: 85586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.464C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.448C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.203C>T
  hgvsp: ENST00000454354.1:c.203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3300C>T
  hgvsp: ENST00000251722.6:c.3300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3300C>T
  hgvsp: ENST00000427112.2:c.3300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.499C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3336C>T
  hgvsp: ENST00000450966.1:c.3336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1112Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-234394519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394519
    reference: chr 2
allele count: 1
allele frequency: 1.177939548142389e-5
allele num: 84894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*186G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.498G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.202G>C
  hgvsp: ENSP00000394133.1:p.Gly68Ala
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3299G>C
  hgvsp: ENSP00000387898.2:p.Gly1100Ala
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.463G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3299G>C
  hgvsp: ENSP00000251722.6:p.Gly1100Ala
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.447G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3335G>C
  hgvsp: ENSP00000415434.1:p.Gly1112Ala
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1112Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-234394520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394520
    reference: chr 2
allele count: 7
allele frequency: 8.263487191594854e-5
allele num: 84710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.201G>A
  hgvsp: ENSP00000394133.1:p.Gly68Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.446G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.462G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3298G>A
  hgvsp: ENSP00000251722.6:p.Gly1100Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3334G>A
  hgvsp: ENSP00000415434.1:p.Gly1112Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3298G>A
  hgvsp: ENSP00000387898.2:p.Gly1100Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.497G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18032
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1112Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-234394529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394529
    reference: chr 2
allele count: 1
allele frequency: 1.248969600079934e-5
allele num: 80066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.437G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.192G>A
  hgvsp: ENSP00000394133.1:p.Gly65Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3289G>A
  hgvsp: ENSP00000387898.2:p.Gly1097Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.488G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3325G>A
  hgvsp: ENSP00000415434.1:p.Gly1109Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.453G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*176G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3289G>A
  hgvsp: ENSP00000251722.6:p.Gly1097Arg
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly1109Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/2-234394532-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394532
    reference: chr 2
allele count: 1
allele frequency: 1.266560275603516e-5
allele num: 78954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.450G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3322G>T
  hgvsp: ENSP00000415434.1:p.Gly1108Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3286G>T
  hgvsp: ENSP00000251722.6:p.Gly1096Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3286G>T
  hgvsp: ENSP00000387898.2:p.Gly1096Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.485G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.189G>T
  hgvsp: ENSP00000394133.1:p.Gly64Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*173G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.434G>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1108Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

2-234394533-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394533
    reference: chr 2
allele count: 3
allele frequency: 3.818445638062266e-5
allele num: 78566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3285G>C
  hgvsp: ENSP00000387898.2:p.Gln1095His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3321G>C
  hgvsp: ENSP00000415434.1:p.Gln1107His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*172G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.188G>C
  hgvsp: ENSP00000394133.1:p.Gln63His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3285G>C
  hgvsp: ENSP00000251722.6:p.Gln1095His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.433G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.449G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.484G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln1107His
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS

2-234394533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394533
    reference: chr 2
allele count: 2
allele frequency: 2.545630425374844e-5
allele num: 78566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.188G>A
  hgvsp: ENST00000454354.1:c.188G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3321G>A
  hgvsp: ENST00000450966.1:c.3321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3285G>A
  hgvsp: ENST00000251722.6:c.3285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*172G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.433G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3285G>A
  hgvsp: ENST00000427112.2:c.3285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.449G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.484G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln1107Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

2-234394535-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394535
    reference: chr 2
allele count: 4
allele frequency: 5.130573085013596e-5
allele num: 77964
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3319C>G
  hgvsp: ENSP00000415434.1:p.Gln1107Glu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3283C>G
  hgvsp: ENSP00000387898.2:p.Gln1095Glu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.431C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.186C>G
  hgvsp: ENSP00000394133.1:p.Gln63Glu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.447C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*170C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.482C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3283C>G
  hgvsp: ENSP00000251722.6:p.Gln1095Glu
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17874
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25374
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1107Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234394537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394537
    reference: chr 2
allele count: 1
allele frequency: 1.295135471170284e-5
allele num: 77212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.429C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*168C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3281C>A
  hgvsp: ENSP00000387898.2:p.Ala1094Asp
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3317C>A
  hgvsp: ENSP00000415434.1:p.Ala1106Asp
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.184C>A
  hgvsp: ENSP00000394133.1:p.Ala62Asp
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.445C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.480C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3281C>A
  hgvsp: ENSP00000251722.6:p.Ala1094Asp
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17743
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1106Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-234394538-C-CCGCGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394544
    reference: chr 2
allele count: 1
allele frequency: 1.306199221505264e-5
allele num: 76558
alternate allele: CCGCGTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.473_478dupAACGCG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.177_182dupAACGCG
  hgvsp: ENSP00000394133.1:p.Asn60_Ala61dup
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3274_3279dupAACGCG
  hgvsp: ENSP00000251722.6:p.Asn1092_Ala1093dup
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3274_3279dupAACGCG
  hgvsp: ENSP00000387898.2:p.Asn1092_Ala1093dup
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.422_427dupAACGCG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3310_3315dupAACGCG
  hgvsp: ENSP00000415434.1:p.Asn1104_Ala1105dup
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.438_443dupAACGCG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*161_*166dupAACGCG
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1104_Ala1105dup
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-234394539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394539
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394539
    reference: chr 2
allele count: 4
allele frequency: 5.232451665227743e-5
allele num: 76446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.427G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.443G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*166G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3315G>A
  hgvsp: ENST00000450966.1:c.3315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3279G>A
  hgvsp: ENST00000427112.2:c.3279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.182G>A
  hgvsp: ENST00000454354.1:c.182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3279G>A
  hgvsp: ENST00000251722.6:c.3279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.478G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17577
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 25712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1105Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-234394540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394540
    reference: chr 2
allele count: 2
allele frequency: 2.639079489074211e-5
allele num: 75784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3278C>T
  hgvsp: ENSP00000387898.2:p.Ala1093Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.181C>T
  hgvsp: ENSP00000394133.1:p.Ala61Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.426C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*165C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.442C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3278C>T
  hgvsp: ENSP00000251722.6:p.Ala1093Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3314C>T
  hgvsp: ENSP00000415434.1:p.Ala1105Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.477C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1105Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-234394541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394541
    reference: chr 2
allele count: 11
allele frequency: 1.458383050937343e-4
allele num: 75426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.180G>A
  hgvsp: ENSP00000394133.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.425G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.441G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3313G>A
  hgvsp: ENSP00000415434.1:p.Ala1105Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3277G>A
  hgvsp: ENSP00000387898.2:p.Ala1093Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.476G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3277G>A
  hgvsp: ENSP00000251722.6:p.Ala1093Thr
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17416
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1105Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-234394542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394542
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394542
    reference: chr 2
allele count: 4
allele frequency: 5.310110450297366e-5
allele num: 75328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.475C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.424C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.440C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.179C>T
  hgvsp: ENST00000454354.1:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3276C>T
  hgvsp: ENST00000427112.2:c.3276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3276C>T
  hgvsp: ENST00000251722.6:c.3276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3312C>T
  hgvsp: ENST00000450966.1:c.3312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn1104Asn
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

2-234394545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394545
    reference: chr 2
allele count: 1
allele frequency: 1.338150675766091e-5
allele num: 74730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.421G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.472G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.437G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.176G>A
  hgvsp: ENSP00000394133.1:p.Trp59Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3309G>A
  hgvsp: ENSP00000415434.1:p.Trp1103Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3273G>A
  hgvsp: ENSP00000387898.2:p.Trp1091Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3273G>A
  hgvsp: ENSP00000251722.6:p.Trp1091Ter
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17277
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp1103Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-234394546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394546
    reference: chr 2
allele count: 1
allele frequency: 1.346112427309929e-5
allele num: 74288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.436G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.471G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3272G>A
  hgvsp: ENSP00000251722.6:p.Trp1091Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.420G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3308G>A
  hgvsp: ENSP00000415434.1:p.Trp1103Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.175G>A
  hgvsp: ENSP00000394133.1:p.Trp59Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*159G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3272G>A
  hgvsp: ENSP00000387898.2:p.Trp1091Ter
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17206
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp1103Ter
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-234394566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394566
    reference: chr 2
allele count: 1
allele frequency: 1.43180321296641e-5
allele num: 69842
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3288C>T
  hgvsp: ENST00000450966.1:c.3288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.416C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.451C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3252C>T
  hgvsp: ENST00000427112.2:c.3252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.155C>T
  hgvsp: ENST00000454354.1:c.155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3252C>T
  hgvsp: ENST00000251722.6:c.3252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*139C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.400C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16130
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1096Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-234394568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394568
    reference: chr 2
allele count: 922
allele frequency: 1.327229803650602e-2
allele num: 69468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3286G>A
  hgvsp: ENSP00000415434.1:p.Ala1096Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*137G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.153G>A
  hgvsp: ENSP00000394133.1:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3250G>A
  hgvsp: ENSP00000387898.2:p.Ala1084Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3250G>A
  hgvsp: ENSP00000251722.6:p.Ala1084Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.398G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.449G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.414G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21779
  bin: 7.5e0
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 2.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 16048
  bin: 1.25e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 1.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 9.75e1
  variant carriers: 901
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 7
hgvs: p.Ala1096Thr
num of homozygotes: 41
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-234394569-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394569
    reference: chr 2
allele count: 19176
allele frequency: 2.684887009604884e-1
allele num: 71422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3249T>C
  hgvsp: ENST00000251722.6:c.3249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.413T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3249T>C
  hgvsp: ENST00000427112.2:c.3249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3285T>C
  hgvsp: ENST00000450966.1:c.3285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*136T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.152T>C
  hgvsp: ENST00000454354.1:c.152T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.397T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.448T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15417
  bin: 1.25e1
  variant carriers: 6503
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 20123
  bin: 7.5e0
  variant carriers: 3127
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 1.75e1
  variant carriers: 4882
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 2.25e1
  variant carriers: 1980
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.5e0
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 315
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 739
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 17591
  bin: 9.75e1
  variant carriers: 14559
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 408
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.5e0
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 20742
  bin: 2.25e1
  variant carriers: 382
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 415
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 6.25e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 300
hgvs: p.Tyr1095Tyr
num of homozygotes: 2205
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-234394580-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394580
    reference: chr 2
allele count: 1
allele frequency: 1.765848490199541e-5
allele num: 56630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*125G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3238G>T
  hgvsp: ENSP00000387898.2:p.Glu1080Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.386G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.141G>T
  hgvsp: ENSP00000394133.1:p.Glu48Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.402G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3238G>T
  hgvsp: ENSP00000251722.6:p.Glu1080Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.437G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3274G>T
  hgvsp: ENSP00000415434.1:p.Glu1092Ter
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu1092Ter
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-234394581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394581
    reference: chr 2
allele count: 11
allele frequency: 1.95764370884499e-4
allele num: 56190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.385T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3237T>C
  hgvsp: ENST00000427112.2:c.3237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.401T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.140T>C
  hgvsp: ENST00000454354.1:c.140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.436T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3273T>C
  hgvsp: ENST00000450966.1:c.3273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*124T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3237T>C
  hgvsp: ENST00000251722.6:c.3237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26490
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13700
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1091Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-234394584-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394584
    reference: chr 2
allele count: 16
allele frequency: 2.920347521355041e-4
allele num: 54788
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3270T>G
  hgvsp: ENST00000450966.1:c.3270T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3234T>G
  hgvsp: ENST00000251722.6:c.3234T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.398T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.433T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.382T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3234T>G
  hgvsp: ENST00000427112.2:c.3234T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.137T>G
  hgvsp: ENST00000454354.1:c.137T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*121T>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26731
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13587
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5842
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1090Pro
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: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234394585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394585
    reference: chr 2
allele count: 2
allele frequency: 3.656574520988738e-5
allele num: 54696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.136C>T
  hgvsp: ENSP00000394133.1:p.Pro46Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3233C>T
  hgvsp: ENSP00000251722.6:p.Pro1078Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.381C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.397C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3269C>T
  hgvsp: ENSP00000415434.1:p.Pro1090Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3233C>T
  hgvsp: ENSP00000387898.2:p.Pro1078Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.432C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33963
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1090Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

2-234394591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394591
    reference: chr 2
allele count: 3
allele frequency: 5.825695199627155e-5
allele num: 51496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*114G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.391G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3263G>A
  hgvsp: ENSP00000415434.1:p.Arg1088His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.130G>A
  hgvsp: ENSP00000394133.1:p.Arg44His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3227G>A
  hgvsp: ENSP00000387898.2:p.Arg1076His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3227G>A
  hgvsp: ENSP00000251722.6:p.Arg1076His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.375G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.426G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1088His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-234394592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394592
    reference: chr 2
allele count: 2
allele frequency: 3.90625e-5
allele num: 51200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.425C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3226C>T
  hgvsp: ENSP00000251722.6:p.Arg1076Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.374C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3226C>T
  hgvsp: ENSP00000387898.2:p.Arg1076Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3262C>T
  hgvsp: ENSP00000415434.1:p.Arg1088Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.129C>T
  hgvsp: ENSP00000394133.1:p.Arg44Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.390C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6855
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1088Cys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-234394592-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394592
    reference: chr 2
allele count: 3
allele frequency: 5.859375e-5
allele num: 51200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.425C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3262C>A
  hgvsp: ENSP00000415434.1:p.Arg1088Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*113C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3226C>A
  hgvsp: ENSP00000251722.6:p.Arg1076Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.374C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.129C>A
  hgvsp: ENSP00000394133.1:p.Arg44Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3226C>A
  hgvsp: ENSP00000387898.2:p.Arg1076Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.390C>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27213
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1088Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-234394595-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394595
    reference: chr 2
allele count: 1
allele frequency: 1.995768969784058e-5
allele num: 50106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.126G>C
  hgvsp: ENSP00000394133.1:p.Val43Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.422G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.387G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3259G>C
  hgvsp: ENSP00000415434.1:p.Val1087Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3223G>C
  hgvsp: ENSP00000251722.6:p.Val1075Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3223G>C
  hgvsp: ENSP00000387898.2:p.Val1075Leu
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.371G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*110G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27393
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1087Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-234394595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394595
    reference: chr 2
allele count: 1
allele frequency: 1.995768969784058e-5
allele num: 50106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.371G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*110G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3259G>A
  hgvsp: ENSP00000415434.1:p.Val1087Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3223G>A
  hgvsp: ENSP00000387898.2:p.Val1075Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.422G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3223G>A
  hgvsp: ENSP00000251722.6:p.Val1075Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.387G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.126G>A
  hgvsp: ENSP00000394133.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val1087Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-234394608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394608
    reference: chr 2
allele count: 1
allele frequency: 2.262443438914027e-5
allele num: 44200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3210G>A
  hgvsp: ENST00000427112.2:c.3210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*97G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.113G>A
  hgvsp: ENST00000454354.1:c.113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3246G>A
  hgvsp: ENST00000450966.1:c.3246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.409G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.358G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3210G>A
  hgvsp: ENST00000251722.6:c.3210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.374G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11084
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1082Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-234394610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394610
    reference: chr 2
allele count: 1
allele frequency: 2.369331374686064e-5
allele num: 42206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.111C>T
  hgvsp: ENST00000454354.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.372C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.407C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3208C>T
  hgvsp: ENST00000251722.6:c.3208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3244C>T
  hgvsp: ENST00000450966.1:c.3244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3208C>T
  hgvsp: ENST00000427112.2:c.3208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.356C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1082Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

2-234394613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394613
    reference: chr 2
allele count: 13
allele frequency: 3.18799352592084e-4
allele num: 40778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3205G>A
  hgvsp: ENSP00000387898.2:p.Val1069Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.353G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.369G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.108G>A
  hgvsp: ENSP00000394133.1:p.Val37Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3241G>A
  hgvsp: ENSP00000415434.1:p.Val1081Met
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.404G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3205G>A
  hgvsp: ENSP00000251722.6:p.Val1069Met
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13066
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1081Met
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-234394614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394614
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394614
    reference: chr 2
allele count: 1
allele frequency: 2.485089463220676e-5
allele num: 40240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.368C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.107C>T
  hgvsp: ENST00000454354.1:c.107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.352C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3204C>T
  hgvsp: ENST00000427112.2:c.3204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3204C>T
  hgvsp: ENST00000251722.6:c.3204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3240C>T
  hgvsp: ENST00000450966.1:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.403C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25936
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1080Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-234394623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394623
    reference: chr 2
allele count: 16
allele frequency: 4.4890859098816e-4
allele num: 35642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195C>T
  hgvsp: ENST00000251722.6:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195C>T
  hgvsp: ENST00000427112.2:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231C>T
  hgvsp: ENST00000450966.1:c.3231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98C>T
  hgvsp: ENST00000454354.1:c.98C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24709
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16454
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16872
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3231C>T
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-234394633-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394633
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394633
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 30764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-10T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21174
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-234394638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394638
    reference: chr 2
allele count: 4
allele frequency: 1.456558153084262e-4
allele num: 27462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-15G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-15G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-15G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-15G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-15G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-15G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-15G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-15G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19718
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24843
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-234394639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394639
    reference: chr 2
allele count: 3
allele frequency: 1.09705258538726e-4
allele num: 27346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-16C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-16C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-16C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-16C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-16C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-16C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-16C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-16C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-234394642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394642
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 25892
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-19T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-19T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-19T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-19T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-19T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-19T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-19T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-19T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26002
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16458
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

2-234394646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394646
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 23760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-23C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-23C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-23C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-23C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-23C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-23C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-23C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-23C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17852
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-234394647-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394647
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394647
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 23536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-24G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-24G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-24G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-24G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-24G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-24G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-24G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-24G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27886
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-234394653-CCAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394649
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 21732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-34_394-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-34_359-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-34_343-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-34_3231-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-34_98-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-34_3195-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-34_*82-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-34_3195-31delTTTG
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29117
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: CCAAA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-234394662-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394661
    reference: chr 2
allele count: 4
allele frequency: 2.102828304068973e-4
allele num: 19022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-40delT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-40delT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-40delT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-40delT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-40delT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-40delT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-40delT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-40delT
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27623
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CA
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-234394666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234394666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234394666
    reference: chr 2
allele count: 1
allele frequency: 5.349882302589343e-5
allele num: 18692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.98-43G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3195-43G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.343-43G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3195-43G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*82-43G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.394-43G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.359-43G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3231-43G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
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: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

2-234396593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396593
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396593
    reference: chr 2
allele count: 13
allele frequency: 7.758414896156601e-4
allele num: 16756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+292G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1418G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+292G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+292G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+292G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+292G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+292G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+292G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-234396602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396602
    reference: chr 2
allele count: 2
allele frequency: 1.194315060312911e-4
allele num: 16746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+283G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+283G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+283G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+283G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1409G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+283G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+283G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+283G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-234396612-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396612
    reference: chr 2
allele count: 1
allele frequency: 5.964451866873435e-5
allele num: 16766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+273A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.*22A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+273A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1399A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+273A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+273A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+273A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+273A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+273A>T
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-234396634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396634
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396634
    reference: chr 2
allele count: 1
allele frequency: 5.938947618482005e-5
allele num: 16838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1377A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+251A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+251A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.740A>G
  hgvsp: ENSP00000388121.1:p.Ter247TrpextTer3
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+251A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+251A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+251A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+251A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+251A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter247TrpextTer3
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-234396635-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396635
    reference: chr 2
allele count: 1
allele frequency: 5.936832106388031e-5
allele num: 16844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+250G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+250G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+250G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+250G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+250G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+250G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+250G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.739G>C
  hgvsp: ENSP00000388121.1:p.Ter247SerextTer3
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1376G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter247SerextTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

2-234396643-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396643
    reference: chr 2
allele count: 1
allele frequency: 5.921364282330649e-5
allele num: 16888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+242G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1368G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+242G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.731G>C
  hgvsp: ENSP00000388121.1:p.Leu244Phe
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+242G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+242G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+242G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+242G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+242G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu244Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234396653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396653
    reference: chr 2
allele count: 1
allele frequency: 5.910864168341412e-5
allele num: 16918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+232G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+232G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+232G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+232G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+232G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+232G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.722-1G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+232G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1358G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 2.25e1
  variant carriers: 0
hgvs: c.722-1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

2-234396662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396662
    reference: chr 2
allele count: 2
allele frequency: 1.176193836744295e-4
allele num: 17004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.722-10T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1349T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+223T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+223T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+223T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+223T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+223T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+223T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+223T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-234396667-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396667
    reference: chr 2
allele count: 4
allele frequency: 2.33836080907284e-4
allele num: 17106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1344T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.722-15T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+218T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+218T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+218T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+218T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+218T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+218T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+218T>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

2-234396701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234396701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234396701
    reference: chr 2
allele count: 1
allele frequency: 5.414185165132648e-5
allele num: 18470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.3194+184T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000407696
  ensembl transcript: ENST00000450940
  gene symbol: USP40
  hgvsc: ENST00000450940.1:c.*81+184T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.3230+184T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000473191
  gene symbol: USP40
  hgvsc: ENST00000473191.1:n.358+184T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000496298
  gene symbol: USP40
  hgvsc: ENST00000496298.1:n.393+184T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000483519
  gene symbol: USP40
  hgvsc: ENST00000483519.1:n.342+184T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000388121
  ensembl transcript: ENST00000430158
  gene symbol: USP40
  hgvsc: ENST00000430158.1:c.722-49T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.3194+184T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000394133
  ensembl transcript: ENST00000454354
  gene symbol: USP40
  hgvsc: ENST00000454354.1:c.97+1310T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.858710562414266e-5
allele num: 14580
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.591543e6

FS
type: SiteQuality
SIO_000300: 2.504e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

QD
type: SiteQuality
SIO_000300: 8.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
all individuals: 425
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8857
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.019e0

MQRankSum
type: SiteQuality
SIO_000300: -1.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

QD
type: SiteQuality
SIO_000300: 1.63e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.921e-1

DP
type: SiteQuality
SIO_000300: 1.592881e6

GenotypeQuality
all individuals: 739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6736
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 852
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.887052341597796e-5
allele num: 14520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.042e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 1.585832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
all individuals: 2745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 7.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.649511744523621e-5
allele num: 60624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.579938e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.506e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
all individuals: 746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6772
bin: 9.75e1
variant carriers: 38

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

GenotypeQuality
all individuals: 725
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.971733793378011e-4
allele num: 60284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.89077274209325e-4
allele num: 6134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.565368e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.956037840845854e-5
allele num: 14376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.553568e6

QD
type: SiteQuality
SIO_000300: 1.487e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

GenotypeQuality
all individuals: 608
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1629
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11066
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6748
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 425
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.335826876836762e-4
allele num: 7486
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 9.810791871058165e-4
allele num: 14270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.68662506324844e-5
allele num: 59290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

FS
type: SiteQuality
SIO_000300: 4.712e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 1.535342e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2683
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6740
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.501891021151422e-4
allele num: 14278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 1.534406e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.634e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

FS
type: SiteQuality
SIO_000300: 6.24e-1

QD
type: SiteQuality
SIO_000300: 3.154e1

GenotypeQuality
all individuals: 2866
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12024
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3554
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6745
bin: 9.75e1
variant carriers: 5

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.836477095447454e-4
allele num: 14102
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715265866209263e-5
allele num: 58300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.54e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.513771e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 1430
bin: 6.75e1
variant carriers: 625

GenotypeQuality
all individuals: 271
bin: 1.25e1
variant carriers: 89

GenotypeQuality
all individuals: 571
bin: 2.5e0
variant carriers: 52

GenotypeQuality
all individuals: 611
bin: 8.25e1
variant carriers: 485

GenotypeQuality
all individuals: 409
bin: 1.75e1
variant carriers: 115

GenotypeQuality
all individuals: 740
bin: 4.25e1
variant carriers: 315

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 297

GenotypeQuality
all individuals: 1168
bin: 4.75e1
variant carriers: 586

GenotypeQuality
all individuals: 26859
bin: 9.75e1
variant carriers: 24654

GenotypeQuality
all individuals: 9834
bin: 6.25e1
variant carriers: 653

GenotypeQuality
all individuals: 1276
bin: 5.25e1
variant carriers: 629

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 370

GenotypeQuality
all individuals: 499
bin: 9.25e1
variant carriers: 394

East Asian
type: Population
allele count: 1313
allele frequency: 1.816044260027662e-1
allele num: 7230
num of homozygotes: 89

Latino
type: Population
allele count: 2261
allele frequency: 2.411990612331982e-1
allele num: 9374
num of homozygotes: 225

African
type: Population
allele count: 6279
allele frequency: 7.003122908766451e-1
allele num: 8966
num of homozygotes: 2177

European (Non-Finnish)
type: Population
allele count: 20130
allele frequency: 3.431756964096969e-1
allele num: 58658
num of homozygotes: 3116

European (Finnish)
type: Population
allele count: 2483
allele frequency: 4.174512441156691e-1
allele num: 5948
num of homozygotes: 468

Other
type: Population
allele count: 295
allele frequency: 3.706030150753769e-1
allele num: 796
num of homozygotes: 53

South Asian
type: Population
allele count: 4542
allele frequency: 3.151977793199167e-1
allele num: 14410
num of homozygotes: 688

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.46e-2

DP
type: SiteQuality
SIO_000300: 1.590026e6

QD
type: SiteQuality
SIO_000300: 1.831e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

GenotypeQuality
all individuals: 950
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.142595978062157e-4
allele num: 8752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7030
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.656039777712781e-5
allele num: 54704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.276732e6

FS
type: SiteQuality
SIO_000300: 1.919e0

GenotypeQuality
all individuals: 962
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5352
bin: 9.75e1
variant carriers: 150

GenotypeQuality
all individuals: 524
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.519927808693036e-5
allele num: 13298
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.149954001839926e-4
allele num: 8696
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.983572895277207e-4
allele num: 7792
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.36986301369863e-3
allele num: 730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.746721618583739e-4
allele num: 5338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 139
allele frequency: 2.551301347233949e-3
allele num: 54482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.397e1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.270316e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.324503311258278e-4
allele num: 7550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.890931094470917e-5
allele num: 52884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

DP
type: SiteQuality
SIO_000300: 1.221016e6

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.099e1

FS
type: SiteQuality
SIO_000300: 2.918e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 5208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52884
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 1.221016e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 2.918e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeQuality
all individuals: 14934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4392
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.398081534772182e-4
allele num: 8340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.890931094470917e-5
allele num: 52884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.918e0

DP
type: SiteQuality
SIO_000300: 1.221016e6

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeQuality
all individuals: 3702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15718
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5206
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 20422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.361519607843138e-4
allele num: 13056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.3e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.220273e6

GenotypeQuality
all individuals: 21031
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.917545541706615e-5
allele num: 52150
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.652e1

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.402524544179523e-4
allele num: 7130
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49416
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.363884342607747e-4
allele num: 7332
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.110417018402837e-5
allele num: 47384
num of homozygotes: 0

Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele frequency: 8.751458576429405e-4
allele num: 6856
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Other
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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 count: 1
allele frequency: 2.116760509715931e-5
allele num: 47242
num of homozygotes: 0

South Asian
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Latino
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 6504
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.582951420714941e-5
allele num: 43640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 4.657e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.738e0

DP
type: SiteQuality
SIO_000300: 1.045144e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
all individuals: 2594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1710
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.232757824762257e-5
allele num: 43324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.041234e6

FS
type: SiteQuality
SIO_000300: 7.816e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

QD
type: SiteQuality
SIO_000300: 1.305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.33089366463102e-5
allele num: 42902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.566e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

DP
type: SiteQuality
SIO_000300: 1.036899e6

GenotypeQuality
all individuals: 5139
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variant carriers: 0

GenotypeQuality
all individuals: 920
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5186
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.354381503978905e-5
allele num: 42474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 1.662e0

DP
type: SiteQuality
SIO_000300: 1.03403e6

MQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 279
bin: 9.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 838
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GenotypeQuality
all individuals: 357
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.719875395289564e-5
allele num: 42374
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.762114537444934e-4
allele num: 11350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 1.033678e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

FS
type: SiteQuality
SIO_000300: 5.976e0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

GenotypeQuality
all individuals: 281
bin: 9.25e1
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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GenotypeQuality
all individuals: 6379
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 590
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 874
bin: 4.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.7557901745375e-5
allele num: 42054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 6.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

FS
type: SiteQuality
SIO_000300: 9.608000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
SIO_000300: 1.032014e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5194
bin: 9.75e1
variant carriers: 11

Latino
type: Population
allele count: 1
allele frequency: 1.6249593760156e-4
allele num: 6154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.673440114750179e-4
allele num: 41830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.669039145907473e-4
allele num: 11240
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 1.027876e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.580379383023568e-5
allele num: 41752
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

DP
type: SiteQuality
SIO_000300: 1.028448e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 3.797e0

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 825
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GenotypeQuality
all individuals: 26518
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.955758552749418e-5
allele num: 11166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.56e0

VQSLOD
type: SiteQuality
SIO_000300: -5.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.024037e6

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 4154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6339
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 841
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5184
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.428245349910155e-5
allele num: 41182
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 3.242e1

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.835e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.020706e6

GenotypeQuality
all individuals: 5501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5183
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.711156741957563e-4
allele num: 5844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

FS
type: SiteQuality
SIO_000300: 2.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.765e0

DP
type: SiteQuality
SIO_000300: 9.92743e5

QD
type: SiteQuality
SIO_000300: 1.506e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

GenotypeQuality
all individuals: 1093
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 959
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 26312
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 337
bin: 7.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4252
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 747
bin: 6.75e1
variant carriers: 14

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3467
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 3622
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5215
bin: 6.25e1
variant carriers: 20

GenotypeQuality
all individuals: 282
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 317
bin: 8.25e1
variant carriers: 13

African
type: Population
allele count: 868
allele frequency: 1.454911163258465e-1
allele num: 5966
num of homozygotes: 41

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4866
num of homozygotes: 0

Latino
type: Population
allele count: 41
allele frequency: 7.572958995197636e-3
allele num: 5414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.87236264884061e-4
allele num: 38296
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.875117194824677e-4
allele num: 10666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.96e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 9.92417e5

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.733e1

GenotypeQuality
all individuals: 754
bin: 5.25e1
variant carriers: 439

GenotypeQuality
all individuals: 2055
bin: 2.5e0
variant carriers: 83

GenotypeQuality
all individuals: 649
bin: 4.75e1
variant carriers: 385

GenotypeQuality
all individuals: 1249
bin: 1.75e1
variant carriers: 277

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 455

GenotypeQuality
all individuals: 362
bin: 7.25e1
variant carriers: 223

GenotypeQuality
all individuals: 503
bin: 4.25e1
variant carriers: 269

GenotypeQuality
all individuals: 502
bin: 7.75e1
variant carriers: 336

GenotypeQuality
all individuals: 1756
bin: 2.75e1
variant carriers: 252

GenotypeQuality
all individuals: 747
bin: 1.25e1
variant carriers: 171

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 406

GenotypeQuality
all individuals: 620
bin: 8.75e1
variant carriers: 512

GenotypeQuality
all individuals: 675
bin: 6.75e1
variant carriers: 232

East Asian
type: Population
allele count: 899
allele frequency: 1.803772070626003e-1
allele num: 4984
num of homozygotes: 45

Latino
type: Population
allele count: 1089
allele frequency: 1.966413867822319e-1
allele num: 5538
num of homozygotes: 67

Other
type: Population
allele count: 150
allele frequency: 2.808988764044944e-1
allele num: 534
num of homozygotes: 17

South Asian
type: Population
allele count: 1937
allele frequency: 1.77608655785806e-1
allele num: 10906
num of homozygotes: 168

European (Non-Finnish)
type: Population
allele count: 10686
allele frequency: 2.715214960870007e-1
allele num: 39356
num of homozygotes: 1043

European (Finnish)
type: Population
allele count: 1314
allele frequency: 3.345213849287169e-1
allele num: 3928
num of homozygotes: 166

African
type: Population
allele count: 3101
allele frequency: 5.021049222797928e-1
allele num: 6176
num of homozygotes: 699

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.030667e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.658e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.280624630929729e-5
allele num: 30482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.05042e5

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 33450
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2069
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5801
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 364
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4652
bin: 9.75e1
variant carriers: 12

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 3.641901734869553e-4
allele num: 30204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4304
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 3.555e0

DP
type: SiteQuality
SIO_000300: 9.01689e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

QD
type: SiteQuality
SIO_000300: 1.094e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
all individuals: 308
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33694
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.617141702041641e-3
allele num: 9894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 8.88772e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5855
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1968
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.414834039065701e-5
allele num: 29284
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.364066193853428e-4
allele num: 4230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 8.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.027e0

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

FS
type: SiteQuality
SIO_000300: 1.995e0

DP
type: SiteQuality
SIO_000300: 8.88253e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

GenotypeQuality
all individuals: 603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33655
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.97456279809221e-4
allele num: 2516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.017561465127947e-4
allele num: 3986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 7.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.028e-1

FS
type: SiteQuality
SIO_000300: 8.362e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 8.68978e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34053
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.46448087431694e-4
allele num: 3660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27238
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.146e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 1.462e0

DP
type: SiteQuality
SIO_000300: 8.63573e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
all individuals: 222
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.066115702479339e-4
allele num: 9680
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.532928064842959e-4
allele num: 3948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.462e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 8.63573e5

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4649
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.730748225013654e-4
allele num: 3662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.05e0

FS
type: SiteQuality
SIO_000300: 2.628e0

DP
type: SiteQuality
SIO_000300: 8.50791e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 1600
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.75629178874615e-5
allele num: 26622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.628e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
SIO_000300: 7.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 8.50791e5

GenotypeQuality
all individuals: 1613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32789
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 120
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.335009537020981e-5
allele num: 23068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 7.96188e5

FS
type: SiteQuality
SIO_000300: 4.42e0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

QD
type: SiteQuality
SIO_000300: 1.116e1

GenotypeQuality
all individuals: 1180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.09217999126256e-4
allele num: 9156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

DP
type: SiteQuality
SIO_000300: 7.80128e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.689e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

QD
type: SiteQuality
SIO_000300: 7.38e0

FS
type: SiteQuality
SIO_000300: 6.054e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.816e0

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: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 2

African
type: Population
allele count: 13
allele frequency: 4.223521767381416e-3
allele num: 3078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 9.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 7.68655e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.289473684210526e-4
allele num: 3040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

FS
type: SiteQuality
SIO_000300: 2.59e0

QD
type: SiteQuality
SIO_000300: 7.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 7.64145e5

GenotypeQuality
all individuals: 27703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 780
bin: 2.5e0
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GenotypeQuality
all individuals: 2186
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 382
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1468
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 4.136029411764706e-3
allele num: 2176
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 3.908867545231181e-4
allele num: 17908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 7.26482e5

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

FS
type: SiteQuality
SIO_000300: 2.362e0

QD
type: SiteQuality
SIO_000300: 1.054e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15034
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

QD
type: SiteQuality
SIO_000300: 4.74e0

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

South Asian
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allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.067484662576687e-4
allele num: 13040
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.49383e5

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.77e-2

FS
type: SiteQuality
SIO_000300: 1.049e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.545117428924598e-4
allele num: 12944
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.194743130227001e-4
allele num: 8370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 6.48544e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

QD
type: SiteQuality
SIO_000300: 2.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -2.672e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1946
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 6.33346e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 6.15278e5

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.46e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.10817e5

VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 5.030181086519115e-4
allele num: 7952
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.57e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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SIO_000300: 7.199999999999999e-2

BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.510000000000001e-2

VQSLOD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.62577e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

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: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.356993736951983e-2
allele num: 958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 3.436e0

DP
type: SiteQuality
SIO_000300: 3.34584e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.029e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.603488674824265e-4
allele num: 7682
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 6.284e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 3.34842e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.824e0

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
all individuals: 569
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0351966873706e-3
allele num: 966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.87e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

FS
type: SiteQuality
SIO_000300: 1.081e0

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.512e-1

QD
type: SiteQuality
SIO_000300: 8.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

DP
type: SiteQuality
SIO_000300: 3.35704e5

GenotypeQuality
all individuals: 376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 1533
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006036217303823e-3
allele num: 994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.37785e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

FS
type: SiteQuality
SIO_000300: 3.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 996
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.297690111601349e-4
allele num: 7706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

DP
type: SiteQuality
SIO_000300: 3.38126e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.373e0

VQSLOD
type: SiteQuality
SIO_000300: -8.465e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.082e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.881422924901185e-4
allele num: 1012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 3.38942e5

FS
type: SiteQuality
SIO_000300: 8.321999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 3.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.855e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.384e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.807011203469462e-4
allele num: 5534
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.427e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 1.011e1

DP
type: SiteQuality
SIO_000300: 3.39777e5

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.761904761904762e-3
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.994011976047904e-3
allele num: 334
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.264e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 3.42415e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.063e0

QD
type: SiteQuality
SIO_000300: 1.199e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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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: 124
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GenotypeQuality
all individuals: 106
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 601
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.145356315924878e-4
allele num: 7774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.1525e1

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 3.44217e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.139e0

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1