2-231949811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949811
    reference: chr 2
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1484C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1801C>T
  hgvsp: ENSP00000309474.6:p.Arg601Cys
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.18C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1801C>T
  hgvsp: ENSP00000386932.1:p.Arg601Cys
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1801C>T
  hgvsp: ENSP00000362738.4:p.Arg601Cys
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.279C>T
  hgvsp: ENSP00000410061.1:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg601Cys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-231949812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949812
    reference: chr 2
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.280G>A
  hgvsp: ENSP00000410061.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1802G>A
  hgvsp: ENSP00000386932.1:p.Arg601His
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.19G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1802G>A
  hgvsp: ENSP00000309474.6:p.Arg601His
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1802G>A
  hgvsp: ENSP00000362738.4:p.Arg601His
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1485G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg601His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-231949816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949816
    reference: chr 2
allele count: 3
allele frequency: 2.476432616268511e-5
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1806G>A
  hgvsp: ENST00000409643.1:c.1806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.284G>A
  hgvsp: ENST00000447633.1:c.284G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1489G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1806G>A
  hgvsp: ENST00000308696.6:c.1806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1806G>A
  hgvsp: ENST00000373635.4:c.1806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.23G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu602Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-231949838-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949838
    reference: chr 2
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1501+10C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1818+10C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1818+10C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1818+10C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.296+10C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.35+10C>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-231949839-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949839
    reference: chr 2
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.35+11T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1501+11T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1818+11T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1818+11T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1818+11T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.296+11T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-231949864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949864
    reference: chr 2
allele count: 3
allele frequency: 2.493889969574542e-5
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1501+36C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1818+36C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1818+36C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.296+36C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.35+36C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1818+36C>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11109
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-231949872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949872
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949872
    reference: chr 2
allele count: 1
allele frequency: 8.351707088928977e-6
allele num: 119736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.35+44C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.296+44C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1501+44C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1818+44C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1818+44C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1818+44C>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-231949879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231949879
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231949879
    reference: chr 2
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.296+51A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1818+51A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1501+51A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1818+51A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1818+51A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.35+51A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-231951782-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951782
    reference: chr 2
allele count: 5
allele frequency: 4.181930713771934e-5
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-49C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-49C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-49C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-49C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-49C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-49C>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15906
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17677
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

2-231951786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951786
    reference: chr 2
allele count: 1
allele frequency: 8.359666282122017e-6
allele num: 119622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-45T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-45T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-45T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-45T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-45T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-45T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-231951795-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951795
    reference: chr 2
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-36A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-36A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-36A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-36A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-36A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-36A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1881
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genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
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genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-231951798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951798
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951798
    reference: chr 2
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-33T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-33T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-33T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-33T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-33T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-33T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-231951800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951800
    reference: chr 2
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-31G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-31G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-31G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-31G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-31G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-31G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-231951800-GTATAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951795
    reference: chr 2
allele count: 45
allele frequency: 3.752313926921602e-4
allele num: 119926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-24_36-20delATAAT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-24_1819-20delATAAT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-24_1819-20delATAAT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-24_*1502-20delATAAT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-24_1819-20delATAAT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-24_297-20delATAAT
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22298
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20057
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: GTATAA
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-231951802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951802
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951802
    reference: chr 2
allele count: 1
allele frequency: 8.339588024351597e-6
allele num: 119910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-29A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-29A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-29A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-29A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-29A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-29A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-231951818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951818
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951818
    reference: chr 2
allele count: 2
allele frequency: 1.656534199148542e-5
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-13C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-13C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-13C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-13C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-13C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-13C>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

2-231951821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951821
    reference: chr 2
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-10T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-10T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-10T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-10T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-10T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-10T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-231951822-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951822
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951822
    reference: chr 2
allele count: 3
allele frequency: 2.482210822439186e-5
allele num: 120860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-9T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-9T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-9T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-9T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-9T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-9T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-231951823-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951823
    reference: chr 2
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-8C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-8C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-8C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-8C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-8C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-8C>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1819-8C>A
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-231951825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951825
    reference: chr 2
allele count: 2
allele frequency: 1.653876686954221e-5
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.36-6C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.297-6C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1819-6C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1819-6C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1502-6C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1819-6C>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1819-6C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-231951833-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951833
    reference: chr 2
allele count: 27
allele frequency: 2.230446419720451e-4
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1504A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1821A>G
  hgvsp: ENST00000409643.1:c.1821A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.299A>G
  hgvsp: ENST00000447633.1:c.299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1821A>G
  hgvsp: ENST00000308696.6:c.1821A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.38A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1821A>G
  hgvsp: ENST00000373635.4:c.1821A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25243
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1821A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-231951835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951835
    reference: chr 2
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.40G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.301G>A
  hgvsp: ENSP00000410061.1:p.Ser101Asn
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1506G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1823G>A
  hgvsp: ENSP00000386932.1:p.Ser608Asn
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1823G>A
  hgvsp: ENSP00000362738.4:p.Ser608Asn
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1823G>A
  hgvsp: ENSP00000309474.6:p.Ser608Asn
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser608Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-231951844-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951844
    reference: chr 2
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1515A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.49A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1832A>G
  hgvsp: ENSP00000362738.4:p.Asn611Ser
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.310A>G
  hgvsp: ENSP00000410061.1:p.Asn104Ser
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1832A>G
  hgvsp: ENSP00000386932.1:p.Asn611Ser
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1832A>G
  hgvsp: ENSP00000309474.6:p.Asn611Ser
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn611Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-231951861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951861
    reference: chr 2
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1849G>A
  hgvsp: ENSP00000362738.4:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.327G>A
  hgvsp: ENSP00000410061.1:p.Ala110Thr
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.66G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1849G>A
  hgvsp: ENSP00000309474.6:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1849G>A
  hgvsp: ENSP00000386932.1:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1532G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala617Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-231951865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951865
    reference: chr 2
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1853C>T
  hgvsp: ENSP00000309474.6:p.Ala618Val
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1853C>T
  hgvsp: ENSP00000386932.1:p.Ala618Val
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1853C>T
  hgvsp: ENSP00000362738.4:p.Ala618Val
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.70C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1536C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.331C>T
  hgvsp: ENSP00000410061.1:p.Ala111Val
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala618Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-231951869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951869
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951869
    reference: chr 2
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1857A>G
  hgvsp: ENST00000409643.1:c.1857A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.335A>G
  hgvsp: ENST00000447633.1:c.335A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1857A>G
  hgvsp: ENST00000373635.4:c.1857A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1857A>G
  hgvsp: ENST00000308696.6:c.1857A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1540A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.74A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val619Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-231951902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951902
    reference: chr 2
allele count: 3
allele frequency: 2.538672443556849e-5
allele num: 118172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+7A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+7A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+7A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+7A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+7A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+7A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20733
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39024
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1883+7A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

2-231951908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951908
    reference: chr 2
allele count: 1
allele frequency: 8.551247627028784e-6
allele num: 116942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+13A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+13A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+13A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+13A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+13A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+13A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-231951914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951914
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951914
    reference: chr 2
allele count: 1
allele frequency: 8.791517943488123e-6
allele num: 113746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+19T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+19T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+19T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+19T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+19T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+19T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-231951927-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951927
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951926
    reference: chr 2
allele count: 2
allele frequency: 1.806554178559815e-5
allele num: 110708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+35delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+35delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+35delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+35delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+35delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+35delT
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: AT
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-231951929-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951929
    reference: chr 2
allele count: 1
allele frequency: 9.177006093532046e-6
allele num: 108968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+34T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+34T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+34T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+34T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+34T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+34T>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-231951930-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951930
    reference: chr 2
allele count: 1
allele frequency: 9.177006093532046e-6
allele num: 108968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+35T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+35T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+35T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+35T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+35T>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+35T>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-231951932-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951933
    reference: chr 2
allele count: 11
allele frequency: 1.056189269117026e-4
allele num: 104148
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+45dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+45dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+45dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+45dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+45dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+45dupT
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16274
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7170
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-231951932-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951932
    reference: chr 2
allele count: 9
allele frequency: 8.641548565502938e-5
allele num: 104148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+37A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+37A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+37A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+37A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+37A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+37A>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16274
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-231951932-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231951932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231951931
    reference: chr 2
allele count: 10
allele frequency: 9.601720628336598e-5
allele num: 104148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+45delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+45delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+45delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+45delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.100+45delT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+45delT
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16274
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7170
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12429
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: AT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-231973202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973202
    reference: chr 2
allele count: 2
allele frequency: 1.71124458818899e-5
allele num: 116874
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21307A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21307A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-76A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21307A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.*29T>C
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21307A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21307A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29037
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-231973208-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973208
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973208
    reference: chr 2
allele count: 1
allele frequency: 8.513536523071684e-6
allele num: 117460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21313T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.*23A>G
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-70T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21313T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21313T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21313T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21313T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-231973230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973230
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973230
    reference: chr 2
allele count: 18
allele frequency: 1.507613447911955e-4
allele num: 119394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21335G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.*1C>T
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-48G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21335G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21335G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21335G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21335G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32182
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

2-231973237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973237
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973237
    reference: chr 2
allele count: 2
allele frequency: 1.670480931460167e-5
allele num: 119726
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1440T>C
  hgvsp: ENST00000258400.3:c.1440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21342A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-41A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21342A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21342A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21342A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21342A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr480Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-231973239-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973239
    reference: chr 2
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21344A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1438T>A
  hgvsp: ENSP00000258400.3:p.Tyr480Asn
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21344A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-39A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21344A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21344A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21344A>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr480Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

2-231973248-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973248
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973248
    reference: chr 2
allele count: 2
allele frequency: 1.666500016665e-5
allele num: 120012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21353G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1429C>G
  hgvsp: ENSP00000258400.3:p.Gln477Glu
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21353G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21353G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-30G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21353G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21353G>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31773
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln477Glu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-231973250-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973250
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973250
    reference: chr 2
allele count: 2
allele frequency: 1.665833749791771e-5
allele num: 120060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21355T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21355T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21355T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21355T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1427A>G
  hgvsp: ENSP00000258400.3:p.Glu476Gly
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-28T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21355T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu476Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-231973257-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973257
    reference: chr 2
allele count: 2
allele frequency: 1.663506005256679e-5
allele num: 120228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21362T>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21362T>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21362T>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1420A>T
  hgvsp: ENSP00000258400.3:p.Thr474Ser
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21362T>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.101-21T>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21362T>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr474Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-231973287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973287
    reference: chr 2
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1390C>T
  hgvsp: ENSP00000258400.3:p.Leu464Phe
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21392G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.110G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21392G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21392G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21392G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21392G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu464Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-231973289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973289
    reference: chr 2
allele count: 22
allele frequency: 1.824545107731095e-4
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21394G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.112G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1388C>T
  hgvsp: ENSP00000258400.3:p.Thr463Met
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21394G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21394G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21394G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21394G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 9.75e1
  variant carriers: 22
hgvs: p.Thr463Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-231973289-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973289
    reference: chr 2
allele count: 2
allele frequency: 1.658677370664632e-5
allele num: 120578
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1388C>A
  hgvsp: ENSP00000258400.3:p.Thr463Lys
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21394G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.112G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21394G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21394G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21394G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21394G>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr463Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

2-231973302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973302
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973302
    reference: chr 2
allele count: 4
allele frequency: 3.313068398297083e-5
allele num: 120734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21407T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21407T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21407T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1375A>G
  hgvsp: ENSP00000258400.3:p.Ile459Val
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.125T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21407T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21407T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16704
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile459Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-231973304-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973304
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973304
    reference: chr 2
allele count: 9
allele frequency: 7.453786523553965e-5
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.127A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1373T>C
  hgvsp: ENSP00000258400.3:p.Ile458Thr
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21409A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21409A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21409A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21409A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21409A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30005
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile458Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-231973308-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973308
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1369T>G
  hgvsp: ENSP00000258400.3:p.Ser457Ala
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21413A>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21413A>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21413A>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.131A>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21413A>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21413A>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser457Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

2-231973316-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973316
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973316
    reference: chr 2
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21421T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1361A>G
  hgvsp: ENSP00000258400.3:p.Gln454Arg
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.139T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21421T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21421T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21421T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21421T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln454Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

2-231973325-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973325
    reference: chr 2
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21430G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21430G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.148G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21430G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1352C>A
  hgvsp: ENSP00000258400.3:p.Ser451Ter
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21430G>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21430G>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser451Ter
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-231973331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973331
    reference: chr 2
allele count: 3
allele frequency: 2.481594838282736e-5
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21436C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21436C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21436C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1346G>A
  hgvsp: ENSP00000258400.3:p.Arg449Gln
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.154C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21436C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21436C>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg449Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-231973332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973332
    reference: chr 2
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1345C>T
  hgvsp: ENSP00000258400.3:p.Arg449Ter
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21437G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.155G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21437G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21437G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21437G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21437G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg449Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

2-231973341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973341
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973341
    reference: chr 2
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21446T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21446T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1336A>G
  hgvsp: ENSP00000258400.3:p.Met446Val
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21446T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21446T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.164T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21446T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8244
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met446Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-231973346-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973347
    reference: chr 2
allele count: 4
allele frequency: 3.304801877127466e-5
allele num: 121036
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1330dupA
  hgvsp: ENSP00000258400.3:p.Ser444LysfsTer25
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21452dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21452dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21452dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21452dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21452dupT
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.170dupT
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser444LysfsTer25
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-231973348-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973348
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973348
    reference: chr 2
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21453C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21453C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21453C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21453C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1329G>C
  hgvsp: ENSP00000258400.3:p.Gln443His
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.171C>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21453C>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln443His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-231973352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973352
    reference: chr 2
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21457T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21457T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21457T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21457T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21457T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1325A>G
  hgvsp: ENSP00000258400.3:p.Tyr442Cys
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.175T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr442Cys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-231973362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973362
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973362
    reference: chr 2
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21467G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21467G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.185G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21467G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1315C>T
  hgvsp: ENSP00000258400.3:p.Pro439Ser
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21467G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21467G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro439Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-231973363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973363
    reference: chr 2
allele count: 1166
allele frequency: 9.629042380999571e-3
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21468G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21468G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.186G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21468G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21468G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1314C>T
  hgvsp: ENST00000258400.3:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21468G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 28659
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 8171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 9.75e1
  variant carriers: 1101
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Asn438Asn
num of homozygotes: 58
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-231973376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973376
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973376
    reference: chr 2
allele count: 11
allele frequency: 9.082052213543817e-5
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.199C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1301G>A
  hgvsp: ENSP00000258400.3:p.Arg434Gln
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21481C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21481C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21481C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21481C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21481C>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg434Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-231973377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973377
    reference: chr 2
allele count: 3
allele frequency: 2.476800634060962e-5
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21482G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21482G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.200G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21482G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1300C>T
  hgvsp: ENSP00000258400.3:p.Arg434Ter
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21482G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21482G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8299
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg434Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-231973378-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973378
    reference: chr 2
allele count: 73
allele frequency: 6.026284506670189e-4
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.201A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1299T>A
  hgvsp: ENST00000258400.3:c.1299T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21483A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21483A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21483A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21483A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21483A>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28606
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 18083
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile433Ile
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-231973381-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973381
    reference: chr 2
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21486T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21486T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21486T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21486T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1296A>G
  hgvsp: ENST00000258400.3:c.1296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.204T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21486T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly432Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-231973383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973383
    reference: chr 2
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1294G>A
  hgvsp: ENSP00000258400.3:p.Gly432Arg
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21488C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21488C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21488C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21488C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.206C>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21488C>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly432Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-231973384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973384
    reference: chr 2
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.207A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21489A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1293T>C
  hgvsp: ENST00000258400.3:c.1293T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21489A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21489A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21489A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21489A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His431His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-231973385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973385
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973385
    reference: chr 2
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21490T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21490T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.208T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1292A>G
  hgvsp: ENSP00000258400.3:p.His431Arg
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21490T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21490T>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21490T>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18138
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His431Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-231973401-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973402
    reference: chr 2
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.225dupA
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21507dupA
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21507dupA
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21507dupA
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1275dupT
  hgvsp: ENSP00000258400.3:p.Lys426Ter
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21507dupA
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21507dupA
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys426Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-231973402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973402
    reference: chr 2
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1275T>C
  hgvsp: ENST00000258400.3:c.1275T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21507A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.225A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21507A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21507A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21507A>G
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21507A>G
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser425Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-231973402-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973402
    reference: chr 2
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21507A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1275T>A
  hgvsp: ENST00000258400.3:c.1275T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21507A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21507A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.225A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21507A>T
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21507A>T
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser425Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-231973403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973403
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1274C>T
  hgvsp: ENSP00000258400.3:p.Ser425Phe
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.226G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21508G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21508G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21508G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21508G>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21508G>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser425Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

2-231973403-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973403
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21508G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21508G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.226G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21508G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21508G>C
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1274C>G
  hgvsp: ENSP00000258400.3:p.Ser425Cys
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21508G>C
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser425Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-231973408-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231973408
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231973408
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000362738
  ensembl transcript: ENST00000373635
  gene symbol: PSMD1
  hgvsc: ENST00000373635.4:c.1883+21513C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135914
  ensembl protein: ENSP00000258400
  ensembl transcript: ENST00000258400
  gene symbol: HTR2B
  hgvsc: ENST00000258400.3:c.1269G>T
  hgvsp: ENSP00000258400.3:p.Glu423Asp
  variant of: http://identifiers.org/hgnc/5294
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000410061
  ensembl transcript: ENST00000447633
  gene symbol: PSMD1
  hgvsc: ENST00000447633.1:c.361+21513C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000386932
  ensembl transcript: ENST00000409643
  gene symbol: PSMD1
  hgvsc: ENST00000409643.1:c.1883+21513C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000400483
  ensembl transcript: ENST00000431051
  gene symbol: PSMD1
  hgvsc: ENST00000431051.1:c.*1566+21513C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173692
  ensembl transcript: ENST00000488354
  gene symbol: PSMD1
  hgvsc: ENST00000488354.1:n.231C>A
  variant of: http://identifiers.org/hgnc/9554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173692
  ensembl protein: ENSP00000309474
  ensembl transcript: ENST00000308696
  gene symbol: PSMD1
  hgvsc: ENST00000308696.6:c.1883+21513C>A
  variant of: http://identifiers.org/hgnc/9554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu423Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6997
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39779
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5803
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.805548e6

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 9.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 2.709e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.425e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

DP
type: SiteQuality
SIO_000300: 1.805561e6

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6998
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.031e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.804967e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.092e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.062e0

DP
type: SiteQuality
SIO_000300: 1.799648e6

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.239e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeQuality
all individuals: 173
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 1.798683e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.484e0

QD
type: SiteQuality
SIO_000300: 9.19e0

GenotypeQuality
all individuals: 30676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6999
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.516174402250352e-4
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.081e1

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.382e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 1.753608e6

GenotypeQuality
all individuals: 1859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6994
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

QD
type: SiteQuality
SIO_000300: 9.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.733069e6

GenotypeQuality
all individuals: 424
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65518
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.813678829543451e-5
allele num: 11346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.738168e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.099e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.748e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.897875657766517e-4
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.159911297277319e-5
allele num: 16234
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

DP
type: SiteQuality
SIO_000300: 1.691762e6

QD
type: SiteQuality
SIO_000300: 1.047e1

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.563e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0

GenotypeQuality
all individuals: 30722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.151574803149606e-5
allele num: 16256
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65700
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.703796e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.409e1

GenotypeQuality
all individuals: 1456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.743694e6

VQSLOD
type: SiteQuality
SIO_000300: -5.544e-1

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 543
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519248883352071e-5
allele num: 65822
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e-1

DP
type: SiteQuality
SIO_000300: 1.75552e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
type: SiteQuality
SIO_000300: 1.072e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 4064
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.763854e6

MQ
type: SiteQuality
SIO_000300: 5.253e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.809e0

QD
type: SiteQuality
SIO_000300: 1.059e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 44
allele frequency: 5.163107251818822e-3
allele num: 8522
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.763854e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.809e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

DP
type: SiteQuality
SIO_000300: 1.769054e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

FS
type: SiteQuality
SIO_000300: 2.372e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015408738654524e-5
allele num: 66326
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.803208e6

QD
type: SiteQuality
SIO_000300: 1.713e1

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.146e0

VQSLOD
type: SiteQuality
SIO_000300: -1.465e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 4.636e0

GenotypeQuality
all individuals: 1496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44216
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: -4.584e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.80534e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.631e0

QD
type: SiteQuality
SIO_000300: 1.167e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011141222523336e-5
allele num: 66420
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 5.444e0

DP
type: SiteQuality
SIO_000300: 1.806247e6

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4023
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44273
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7190
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 7.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.506e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.928e0

DP
type: SiteQuality
SIO_000300: 1.807213e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeQuality
all individuals: 1415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4023
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 248
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.808342e6

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.938e-1

FS
type: SiteQuality
SIO_000300: 2.248e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

QD
type: SiteQuality
SIO_000300: 7.29e0

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

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.607286719172729e-4
allele num: 66532
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

DP
type: SiteQuality
SIO_000300: 1.811731e6

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeQuality
all individuals: 830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
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GenotypeQuality
all individuals: 4019
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.262e0

FS
type: SiteQuality
SIO_000300: 1.156e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 1.81136e6

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 44679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.91e0

DP
type: SiteQuality
SIO_000300: 1.812576e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.84e1

FS
type: SiteQuality
SIO_000300: 1.053e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.109e1

DP
type: SiteQuality
SIO_000300: 1.813223e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 3.009e0

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: -1.942e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

DP
type: SiteQuality
SIO_000300: 1.813042e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.83e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.324e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

QD
type: SiteQuality
SIO_000300: 1.236e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

DP
type: SiteQuality
SIO_000300: 1.812765e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64668
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.854828737479906e-4
allele num: 16174
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 5.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

QD
type: SiteQuality
SIO_000300: 1.571e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 1.749423e6

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564651395669045e-5
allele num: 63912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.852e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 1.716129e6

FS
type: SiteQuality
SIO_000300: 2.431e0

MQRankSum
type: SiteQuality
SIO_000300: -1.318e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

QD
type: SiteQuality
SIO_000300: 1.601e1

GenotypeQuality
all individuals: 420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3062
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variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.336332530731213e-5
allele num: 15782
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.058e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.597823e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 773
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.322590291391168e-5
allele num: 60194
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.253e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.44623e6

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.35e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.694628029147602e-5
allele num: 59010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.785e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.679e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 2.158e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.3966e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.351716680183834e-4
allele num: 7398
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59030
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.6e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.3958e6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

Other
type: Population
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allele num: 802
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East Asian
type: Population
allele count: 1
allele frequency: 1.41643059490085e-4
allele num: 7060
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South Asian
type: Population
allele count: 3
allele frequency: 2.041094026398149e-4
allele num: 14698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.110352673492605e-5
allele num: 56256
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.541984732824427e-5
allele num: 10480
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.28675966155957e-4
allele num: 8746
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.21e0

DP
type: SiteQuality
SIO_000300: 1.384735e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
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SIO_000300: 1.92e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.244311717861206e-4
allele num: 56256
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.803646754660499e-5
allele num: 14698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
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African
type: Population
allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.41643059490085e-4
allele num: 7060
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 1.384735e6

GenotypeQuality
all individuals: 958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5122
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1950
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.244311717861206e-4
allele num: 56256
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.541984732824427e-5
allele num: 10480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.41643059490085e-4
allele num: 7060
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.143379830779785e-4
allele num: 8746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14698
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.21e0

DP
type: SiteQuality
SIO_000300: 1.384735e6

GenotypeQuality
all individuals: 2020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 551
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.117692907248636e-5
allele num: 64150
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.511811e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.210408644888833e-5
allele num: 16102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.404e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.853e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

DP
type: SiteQuality
SIO_000300: 1.53549e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.072e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.103888139335214e-3
allele num: 16306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.235e0

QD
type: SiteQuality
SIO_000300: 8.94e0

DP
type: SiteQuality
SIO_000300: 1.586736e6

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 3.764e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.958096729978461e-4
allele num: 10214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.59232e6

FS
type: SiteQuality
SIO_000300: 1.122e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65914
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.736e-1

FS
type: SiteQuality
SIO_000300: 3.503e0

DP
type: SiteQuality
SIO_000300: 1.593427e6

QD
type: SiteQuality
SIO_000300: 7.75e0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7750
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028375882014476e-5
allele num: 66042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.598891e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 5.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.249e1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.222792858889704e-4
allele num: 16356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.457e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

DP
type: SiteQuality
SIO_000300: 1.599705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
all individuals: 36396
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4237
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.948178453146308e-4
allele num: 10266
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.603972e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 3.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.369e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

GenotypeQuality
all individuals: 445
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.991e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

QD
type: SiteQuality
SIO_000300: 4.99e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.617853e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
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variant carriers: 0

GenotypeQuality
all individuals: 7962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 286
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.937233630375823e-4
allele num: 10324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013863773357444e-5
allele num: 66360
num of homozygotes: 0

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

South Asian
type: Population
allele count: 18
allele frequency: 1.096491228070175e-3
allele num: 16416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.365e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 2.534e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.62038e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35970
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variant carriers: 0

GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
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GenotypeQuality
all individuals: 3284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.534e0

DP
type: SiteQuality
SIO_000300: 1.62038e6

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 1957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
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variant carriers: 0

GenotypeQuality
all individuals: 36716
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 230
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variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 8057
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variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.431315341599805e-4
allele num: 16452
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 1.625534e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 1.569e1

GenotypeQuality
all individuals: 36629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 9.75e1
variant carriers: 9

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

South Asian
type: Population
allele count: 8
allele frequency: 4.861448711716091e-4
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 1.62655e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.559e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8075
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
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variant carriers: 0

GenotypeQuality
all individuals: 243
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variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 3.333e0

DP
type: SiteQuality
SIO_000300: 1.628217e6

QD
type: SiteQuality
SIO_000300: 1.252e1

GenotypeQuality
all individuals: 36805
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 824
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.166e0

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

DP
type: SiteQuality
SIO_000300: 1.631906e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 7.6e0

FS
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 976
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variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.635121e6

QD
type: SiteQuality
SIO_000300: 1.148e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.847e0

FS
type: SiteQuality
SIO_000300: 5.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8144
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GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 822
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GenotypeQuality
all individuals: 2861
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GenotypeQuality
all individuals: 4234
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.510414228879008e-4
allele num: 8546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.637483e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 980
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variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
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GenotypeQuality
all individuals: 4233
bin: 9.75e1
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GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37164
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

VQSLOD
type: SiteQuality
SIO_000300: -3.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.638381e6

QD
type: SiteQuality
SIO_000300: 3.491e1

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
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GenotypeQuality
all individuals: 4236
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variant carriers: 1

GenotypeQuality
all individuals: 829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 7.25e1
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GenotypeQuality
all individuals: 1969
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GenotypeQuality
all individuals: 37306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.565e-1

DP
type: SiteQuality
SIO_000300: 1.640517e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

FS
type: SiteQuality
SIO_000300: 2.972e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.74e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

GenotypeQuality
all individuals: 84
bin: 3.25e1
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: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42512428761974e-4
allele num: 16494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.41e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

DP
type: SiteQuality
SIO_000300: 1.641849e6

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

GenotypeQuality
all individuals: 831
bin: 8.75e1
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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

DP
type: SiteQuality
SIO_000300: 1.642013e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.12e1

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

GenotypeQuality
all individuals: 8279
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 4237
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variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.751e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 1.642929e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.388e0

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 833
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.044e0

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 1.644994e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

GenotypeQuality
all individuals: 791
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 36960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
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variant carriers: 3

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 1916
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variant carriers: 1

GenotypeQuality
all individuals: 2840
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variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.101534119907533e-4
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.212121212121212e-3
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 59
allele frequency: 5.124196630189335e-3
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 1071
allele frequency: 1.030600461893764e-1
allele num: 10392
num of homozygotes: 58

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.61e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.696552e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 815
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4442
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variant carriers: 11

GenotypeQuality
all individuals: 37371
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.500780405811022e-4
allele num: 66632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.664478e6

FS
type: SiteQuality
SIO_000300: 1.797e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 812
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variant carriers: 0

GenotypeQuality
all individuals: 37429
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 4434
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501935832407936e-5
allele num: 66638
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 8.894e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.664554e6

VQSLOD
type: SiteQuality
SIO_000300: 8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 811
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4445
bin: 9.75e1
variant carriers: 72

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 37492
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 72
allele frequency: 6.929740134744947e-3
allele num: 10390
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.331e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.702e0

DP
type: SiteQuality
SIO_000300: 1.664798e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 3330
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GenotypeQuality
all individuals: 1987
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variant carriers: 0

GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 8311
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GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.662222e6

FS
type: SiteQuality
SIO_000300: 1.075e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: -4.362e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.773e0

MQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

QD
type: SiteQuality
SIO_000300: 1.654e1

VQSLOD
type: SiteQuality
SIO_000300: -3.712e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 1.66253e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37519
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

DP
type: SiteQuality
SIO_000300: 1.662551e6

QD
type: SiteQuality
SIO_000300: 1.182e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 808
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.374e1

DP
type: SiteQuality
SIO_000300: 1.662639e6

VQSLOD
type: SiteQuality
SIO_000300: -9.58e-2

FS
type: SiteQuality
SIO_000300: 7.463e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.326663564448581e-4
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.664285e6

FS
type: SiteQuality
SIO_000300: 6.957e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
all individuals: 2892
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.664654e6

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2892
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.029385034837928e-4
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

DP
type: SiteQuality
SIO_000300: 1.664654e6

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

GenotypeQuality
all individuals: 1000
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4398
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 3.608e0

DP
type: SiteQuality
SIO_000300: 1.664266e6

QD
type: SiteQuality
SIO_000300: 1.722e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 806
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.246e0

FS
type: SiteQuality
SIO_000300: 3.608e0

DP
type: SiteQuality
SIO_000300: 1.664266e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
SIO_000300: 1.722e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 808
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8327
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.352e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.844e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1