http://identifiers.org/exac.variant/1-150241135-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241135
    reference: chr 1
allele count: 1
allele frequency: 9.440196356084207e-6
allele num: 105930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-235C>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.76G>T
  hgvsp: ENSP00000353380.4:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.281G>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.76G>T
  hgvsp: ENSP00000397473.2:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.76G>T
  hgvsp: ENSP00000236017.5:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.76G>T
  hgvsp: ENSP00000358105.3:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala26Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-150241138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241138
    reference: chr 1
allele count: 1
allele frequency: 9.320533134495293e-6
allele num: 107290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.73G>C
  hgvsp: ENSP00000236017.5:p.Val25Leu
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.73G>C
  hgvsp: ENSP00000397473.2:p.Val25Leu
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.278G>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.73G>C
  hgvsp: ENSP00000353380.4:p.Val25Leu
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.73G>C
  hgvsp: ENSP00000358105.3:p.Val25Leu
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-232C>G
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val25Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-150241151-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241151
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241151
    reference: chr 1
allele count: 2
allele frequency: 1.819637528204382e-5
allele num: 109912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.265T>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.60T>C
  hgvsp: ENST00000360244.4:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.60T>C
  hgvsp: ENST00000369109.3:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-219A>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.60T>C
  hgvsp: ENST00000236017.5:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.60T>C
  hgvsp: ENST00000414276.2:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44258
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu20Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

1-150241157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241157
    reference: chr 1
allele count: 1
allele frequency: 9.07737554918122e-6
allele num: 110164
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-213G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.259C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.54C>T
  hgvsp: ENST00000236017.5:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.54C>T
  hgvsp: ENST00000369109.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.54C>T
  hgvsp: ENST00000360244.4:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.54C>T
  hgvsp: ENST00000414276.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe18Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-150241160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241160
    reference: chr 1
allele count: 5
allele frequency: 4.535723357161e-5
allele num: 110236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.51C>T
  hgvsp: ENST00000414276.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.256C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.51C>T
  hgvsp: ENST00000236017.5:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.51C>T
  hgvsp: ENST00000369109.3:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.51C>T
  hgvsp: ENST00000360244.4:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-210G>A
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala17Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-150241175-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241175
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241175
    reference: chr 1
allele count: 1
allele frequency: 9.146285693379919e-6
allele num: 109334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-195G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.36C>G
  hgvsp: ENST00000360244.4:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.36C>G
  hgvsp: ENST00000369109.3:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.36C>G
  hgvsp: ENST00000236017.5:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.36C>G
  hgvsp: ENST00000414276.2:c.36C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.241C>G
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val12Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-150241179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241179
    reference: chr 1
allele count: 2
allele frequency: 1.832005129614363e-5
allele num: 109170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.237T>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.32T>C
  hgvsp: ENSP00000397473.2:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.32T>C
  hgvsp: ENSP00000353380.4:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.32T>C
  hgvsp: ENSP00000236017.5:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-191A>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.32T>C
  hgvsp: ENSP00000358105.3:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33808
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe11Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-150241187-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241187
    reference: chr 1
allele count: 4
allele frequency: 3.727032164287578e-5
allele num: 107324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.24C>G
  hgvsp: ENST00000236017.5:c.24C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.24C>G
  hgvsp: ENST00000360244.4:c.24C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.24C>G
  hgvsp: ENST00000369109.3:c.24C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.24C>G
  hgvsp: ENST00000414276.2:c.24C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-183G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.229C>G
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30797
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly8Gly
num of homozygotes: 1
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-150241199-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241199
    reference: chr 1
allele count: 1
allele frequency: 9.738805243372743e-6
allele num: 102682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.12G>T
  hgvsp: ENST00000236017.5:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-171C>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.12G>T
  hgvsp: ENST00000360244.4:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.12G>T
  hgvsp: ENST00000414276.2:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.12G>T
  hgvsp: ENST00000369109.3:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.217G>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala4Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-150241199-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241199
    reference: chr 1
allele count: 2
allele frequency: 1.947761048674549e-5
allele num: 102682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.12G>C
  hgvsp: ENST00000360244.4:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.12G>C
  hgvsp: ENST00000369109.3:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-171C>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.12G>C
  hgvsp: ENST00000236017.5:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.217G>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.12G>C
  hgvsp: ENST00000414276.2:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala4Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-150241199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241199
    reference: chr 1
allele count: 3
allele frequency: 2.921641573011823e-5
allele num: 102682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.12G>A
  hgvsp: ENST00000360244.4:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.12G>A
  hgvsp: ENST00000236017.5:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.12G>A
  hgvsp: ENST00000414276.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.12G>A
  hgvsp: ENST00000369109.3:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.217G>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-171C>T
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24092
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala4Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-150241215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241215
    reference: chr 1
allele count: 1
allele frequency: 1.101030564608474e-5
allele num: 90824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.201C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-5C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-5C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-155G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-5C>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-150241215-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241215
    reference: chr 1
allele count: 2
allele frequency: 2.202061129216947e-5
allele num: 90824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-5C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-5C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-5C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.201C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-5C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-155G>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24864
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-150241218-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241218
    reference: chr 1
allele count: 1
allele frequency: 1.137009664582149e-5
allele num: 87950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-8G>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-152C>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-8G>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-8G>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-8G>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.198G>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-152C>A
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-150241220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241220
    reference: chr 1
allele count: 1
allele frequency: 1.157728998795962e-5
allele num: 86376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-10C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-10C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-10C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.196C>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
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genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
hgvs: c.-150G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

1-150241225-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241224
    reference: chr 1
allele count: 1
allele frequency: 1.202501202501202e-5
allele num: 83160
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-16delT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+7delA
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-16delT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.190delT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-16delT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-16delT
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
hgvs: c.-150+7delA
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: GA
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-150241228-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241228
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 79790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-18C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.188C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+8G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-18C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-18C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-18C>G
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
hgvs: c.-150+8G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-150241229-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241229
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241229
    reference: chr 1
allele count: 399
allele frequency: 4.986876640419947e-3
allele num: 80010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.187C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-19C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-19C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-19C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-19C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+9G>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 1.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 7.5e0
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 21016
  bin: 1.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4569
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 375
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 8
num of homozygotes: 5
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-150241229-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241229
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241229
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 80010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.187C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-19C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-19C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-19C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-19C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+9G>T
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 21016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

1-150241230-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241230
    reference: chr 1
allele count: 4
allele frequency: 5.062009617818274e-5
allele num: 79020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-20C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+10G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-20C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-20C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-20C>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.186C>G
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21373
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15617
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11405
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-150241230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241230
    reference: chr 1
allele count: 13131
allele frequency: 1.661731207289294e-1
allele num: 79020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-20C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-20C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-20C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-20C>A
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+10G>T
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.186C>A
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 15617
  bin: 7.5e0
  variant carriers: 1549
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 1.75e1
  variant carriers: 3661
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.5e0
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 708
genotype depth: GenotypeDepth
  all individuals: 21373
  bin: 1.25e1
  variant carriers: 4200
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.25e1
  variant carriers: 1797
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 222
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.5e0
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.75e1
  variant carriers: 176
genotype quality: GenotypeQuality
  all individuals: 11405
  bin: 9.75e1
  variant carriers: 10938
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 23432
  bin: 2.25e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 5656
  bin: 6.25e1
  variant carriers: 192
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 77
num of homozygotes: 1050
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-150241231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241231
    reference: chr 1
allele count: 3
allele frequency: 4.120992334954257e-5
allele num: 72798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-21C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-21C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-21C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-21C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.185C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+11G>A
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

1-150241233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241233
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241233
    reference: chr 1
allele count: 1
allele frequency: 1.445379122943948e-5
allele num: 69186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-23C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+13G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-23C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-23C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.183C>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-150241234-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241234
    reference: chr 1
allele count: 1
allele frequency: 1.455858374097368e-5
allele num: 68688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+14T>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-24A>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-24A>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.182A>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-24A>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-24A>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-150241234-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241234
    reference: chr 1
allele count: 4
allele frequency: 5.823433496389471e-5
allele num: 68688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-24A>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+14T>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-24A>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-24A>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.182A>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-24A>C
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

1-150241234-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241235
    reference: chr 1
allele count: 1
allele frequency: 1.455858374097368e-5
allele num: 68688
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-25dupC
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.181dupC
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+19dupG
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-25dupC
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-25dupC
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-25dupC
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-150241242-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241242
    reference: chr 1
allele count: 1
allele frequency: 1.626122024196696e-5
allele num: 61496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.174A>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-32A>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-32A>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-32A>G
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+22T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-32A>G
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8738
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-150241248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241248
    reference: chr 1
allele count: 1
allele frequency: 1.771102688533881e-5
allele num: 56462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.168C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+28G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-38C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-38C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-38C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-38C>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22624
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-150241251-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241249
    reference: chr 1
allele count: 1
allele frequency: 1.842231310563354e-5
allele num: 54282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-43_-42delCT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-43_-42delCT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-43_-42delCT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-43_-42delCT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.163_164delCT
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+32_-150+33delAG
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10812
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: CAG
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-150241255-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241255
    reference: chr 1
allele count: 1
allele frequency: 1.953048709034803e-5
allele num: 51202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.161G>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+35C>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-45G>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-45G>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-45G>C
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-45G>C
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15435
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

1-150241262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150241262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150241262
    reference: chr 1
allele count: 2
allele frequency: 4.393673110720563e-5
allele num: 45520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000358105
  ensembl transcript: ENST00000369109
  gene symbol: APH1A
  hgvsc: ENST00000369109.3:c.-52C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000397473
  ensembl transcript: ENST00000414276
  gene symbol: APH1A
  hgvsc: ENST00000414276.2:c.-52C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000236017
  ensembl transcript: ENST00000236017
  gene symbol: APH1A
  hgvsc: ENST00000236017.5:c.-52C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-150+42G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117362
  ensembl protein: ENSP00000353380
  ensembl transcript: ENST00000360244
  gene symbol: APH1A
  hgvsc: ENST00000360244.4:c.-52C>T
  variant of: http://identifiers.org/hgnc/29509
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117362
  ensembl transcript: ENST00000461320
  gene symbol: APH1A
  hgvsc: ENST00000461320.1:n.154C>T
  variant of: http://identifiers.org/hgnc/29509
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11022
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-150245172-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245172
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245170
    reference: chr 1
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-46_-45delCT
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-19-27_-19-26delCT
  variant of: http://identifiers.org/hgnc/26258
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 4488
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: ACT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-150245177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245177
    reference: chr 1
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-44G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-19-25G>A
  variant of: http://identifiers.org/hgnc/26258
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1870
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-150245181-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245181
    reference: chr 1
allele count: 5
allele frequency: 4.121467902007979e-5
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-40T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-19-21T>C
  variant of: http://identifiers.org/hgnc/26258
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-150245189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245189
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.-32T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-32T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-19-13T>C
  variant of: http://identifiers.org/hgnc/26258
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-150245190-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245190
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245190
    reference: chr 1
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-31T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-19-12T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.-31T>C
  variant of: http://identifiers.org/hgnc/26258
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

1-150245191-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245191
    reference: chr 1
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.-30T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-19-11T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-30T>C
  variant of: http://identifiers.org/hgnc/26258
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 562
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1664
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1019
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum

1-150245196-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245196
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-25T>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-19-6T>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.-25T>G
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: c.-19-6T>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-150245212-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245212
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.-9G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.-9G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.-9G>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 562
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-150245226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245226
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.6T>C
  hgvsp: ENST00000369102.1:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.6T>C
  hgvsp: ENST00000369099.3:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.6T>C
  hgvsp: ENST00000369098.3:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 562
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genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp2Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-150245227-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245227
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245227
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.7G>T
  hgvsp: ENSP00000358095.3:p.Val3Phe
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.7G>T
  hgvsp: ENSP00000358094.3:p.Val3Phe
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.7G>T
  hgvsp: ENSP00000358098.1:p.Val3Phe
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
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genotype depth: GenotypeDepth
  all individuals: 5753
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genotype depth: GenotypeDepth
  all individuals: 3359
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genotype depth: GenotypeDepth
  all individuals: 1559
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genotype depth: GenotypeDepth
  all individuals: 821
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2719
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 2117
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1677
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val3Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-150245230-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245230
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.10C>G
  hgvsp: ENSP00000358095.3:p.Leu4Val
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.10C>G
  hgvsp: ENSP00000358098.1:p.Leu4Val
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.10C>G
  hgvsp: ENSP00000358094.3:p.Leu4Val
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 3446
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
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  variant carriers: 0
hgvs: p.Leu4Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-150245236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245236
    reference: chr 1
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.16G>A
  hgvsp: ENSP00000358098.1:p.Val6Ile
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.16G>A
  hgvsp: ENSP00000358094.3:p.Val6Ile
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.16G>A
  hgvsp: ENSP00000358095.3:p.Val6Ile
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
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genotype depth: GenotypeDepth
  all individuals: 2720
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
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genotype depth: GenotypeDepth
  all individuals: 4516
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genotype depth: GenotypeDepth
  all individuals: 5753
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genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 562
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genotype depth: GenotypeDepth
  all individuals: 1559
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 1617
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48140
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val6Ile
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: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-150245242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245242
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.22A>G
  hgvsp: ENSP00000358094.3:p.Ile8Val
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.22A>G
  hgvsp: ENSP00000358098.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.22A>G
  hgvsp: ENSP00000358095.3:p.Ile8Val
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile8Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-150245251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245251
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.31G>A
  hgvsp: ENSP00000358095.3:p.Val11Met
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.31G>A
  hgvsp: ENSP00000358098.1:p.Val11Met
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.31G>A
  hgvsp: ENSP00000358094.3:p.Val11Met
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4699
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val11Met
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-150245257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245257
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.37C>T
  hgvsp: ENSP00000358094.3:p.Leu13Phe
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.37C>T
  hgvsp: ENSP00000358095.3:p.Leu13Phe
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.37C>T
  hgvsp: ENSP00000358098.1:p.Leu13Phe
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.75e1
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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: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 48141
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu13Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-150245262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245262
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.42C>T
  hgvsp: ENST00000369098.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.42C>T
  hgvsp: ENST00000369102.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.42C>T
  hgvsp: ENST00000369099.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
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genotype depth: GenotypeDepth
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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: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile14Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-150245264-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245264
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.44T>G
  hgvsp: ENSP00000358094.3:p.Leu15Arg
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.44T>G
  hgvsp: ENSP00000358098.1:p.Leu15Arg
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.44T>G
  hgvsp: ENSP00000358095.3:p.Leu15Arg
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu15Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-150245265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245265
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.45G>A
  hgvsp: ENST00000369099.3:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.45G>A
  hgvsp: ENST00000369102.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.45G>A
  hgvsp: ENST00000369098.3:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: c.45G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-150245266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245266
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46G>A
  hgvsp: ENSP00000358098.1:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46G>A
  hgvsp: ENSP00000358095.3:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46G>A
  hgvsp: ENSP00000358094.3:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly16Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-150245267-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245268
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+2dupT
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+2dupT
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+2dupT
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: c.46+2dupT
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-150245271-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245271
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+5G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+5G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+5G>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 6.75e1
  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: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.75e1
  variant carriers: 0
hgvs: c.46+5G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

1-150245275-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245275
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+9A>T
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+9A>T
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+9A>T
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

1-150245277-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245277
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+11T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+11T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+11T>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1682
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-150245278-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245280
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+19_46+20dupCT
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+19_46+20dupCT
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+19_46+20dupCT
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
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genotype quality: GenotypeQuality
  all individuals: 48140
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-150245287-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245287
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+21G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+21G>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+21G>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-150245288-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245288
    reference: chr 1
allele count: 215
allele frequency: 1.770888244596732e-3
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+22A>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+22A>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+22A>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 2
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-150245295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245295
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+29G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+29G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+29G>A
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-150245305-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245305
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+39T>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+39T>G
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+39T>G
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-150245307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150245307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150245307
    reference: chr 1
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.46+41C>T
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.46+41C>T
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.46+41C>T
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS

1-150246460-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246460
    reference: chr 1
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.47-30T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.47-30T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.47-30T>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
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genotype depth: GenotypeDepth
  all individuals: 3718
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
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genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-150246480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246480
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246480
    reference: chr 1
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.47-10G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.47-10G>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.47-10G>A
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 0
genotype depth: GenotypeDepth
  all individuals: 6122
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1142
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

1-150246484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246484
    reference: chr 1
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.47-6C>T
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.47-6C>T
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.47-6C>T
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
hgvs: c.47-6C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-150246487-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246487
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246487
    reference: chr 1
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.47-3T>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.47-3T>A
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.47-3T>A
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1774
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genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
hgvs: c.47-3T>A
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-150246487-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246487
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246487
    reference: chr 1
allele count: 4
allele frequency: 3.301964668978042e-5
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.47-3T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.47-3T>C
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.47-3T>C
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
hgvs: c.47-3T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-150246490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246490
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246490
    reference: chr 1
allele count: 5
allele frequency: 4.125957222075521e-5
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.47G>A
  hgvsp: ENSP00000358094.3:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.47G>A
  hgvsp: ENSP00000358098.1:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.47G>A
  hgvsp: ENSP00000358095.3:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly16Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-150246495-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246495
    reference: chr 1
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.52G>C
  hgvsp: ENSP00000358098.1:p.Glu18Gln
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.52G>C
  hgvsp: ENSP00000358095.3:p.Glu18Gln
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.52G>C
  hgvsp: ENSP00000358094.3:p.Glu18Gln
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 42569
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu18Gln
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-150246496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246496
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246496
    reference: chr 1
allele count: 8
allele frequency: 6.597176408497163e-5
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.53A>G
  hgvsp: ENSP00000358098.1:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.53A>G
  hgvsp: ENSP00000358095.3:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.53A>G
  hgvsp: ENSP00000358094.3:p.Glu18Gly
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 42568
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 7687
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genotype quality: GenotypeQuality
  all individuals: 923
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu18Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-150246498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246498
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246498
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.55T>C
  hgvsp: ENSP00000358094.3:p.Tyr19His
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.55T>C
  hgvsp: ENSP00000358095.3:p.Tyr19His
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.55T>C
  hgvsp: ENSP00000358098.1:p.Tyr19His
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr19His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-150246504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246504
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.61G>A
  hgvsp: ENSP00000358098.1:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.61G>A
  hgvsp: ENSP00000358095.3:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.61G>A
  hgvsp: ENSP00000358094.3:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp21Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-150246506-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246506
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.63T>G
  hgvsp: ENSP00000358094.3:p.Asp21Glu
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.63T>G
  hgvsp: ENSP00000358098.1:p.Asp21Glu
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.63T>G
  hgvsp: ENSP00000358095.3:p.Asp21Glu
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp21Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-150246516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246516
    reference: chr 1
allele count: 8
allele frequency: 6.591849178490796e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.73C>T
  hgvsp: ENST00000369098.3:c.73C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.73C>T
  hgvsp: ENST00000369102.1:c.73C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.73C>T
  hgvsp: ENST00000369099.3:c.73C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42566
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu25Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-150246529-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246529
    reference: chr 1
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.86A>T
  hgvsp: ENSP00000358098.1:p.Glu29Val
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.86A>T
  hgvsp: ENSP00000358094.3:p.Glu29Val
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.86A>T
  hgvsp: ENSP00000358095.3:p.Glu29Val
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42564
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu29Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-150246531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246531
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.88T>C
  hgvsp: ENSP00000358098.1:p.Tyr30His
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.88T>C
  hgvsp: ENSP00000358094.3:p.Tyr30His
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.88T>C
  hgvsp: ENSP00000358095.3:p.Tyr30His
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42563
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr30His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-150246558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 150246558
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 150246558
    reference: chr 1
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358095
  ensembl transcript: ENST00000369099
  gene symbol: C1orf54
  hgvsc: ENST00000369099.3:c.115G>A
  hgvsp: ENSP00000358095.3:p.Val39Ile
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358094
  ensembl transcript: ENST00000369098
  gene symbol: C1orf54
  hgvsc: ENST00000369098.3:c.115G>A
  hgvsp: ENSP00000358094.3:p.Val39Ile
  variant of: http://identifiers.org/hgnc/26258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118292
  ensembl protein: ENSP00000358098
  ensembl transcript: ENST00000369102
  gene symbol: C1orf54
  hgvsc: ENST00000369102.1:c.115G>A
  hgvsp: ENSP00000358098.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/26258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val39Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 695
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7641
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59186
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.253761283851555e-4
allele num: 7976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 3.492e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

DP
type: SiteQuality
SIO_000300: 1.285912e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e0

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.240079365079365e-4
allele num: 8064
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

FS
type: SiteQuality
SIO_000300: 3.492e0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.300095e6

MQRankSum
type: SiteQuality
SIO_000300: -9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3539
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.272893892779996e-5
allele num: 61108
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.325365e6

VQSLOD
type: SiteQuality
SIO_000300: -6.568000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 1.0001e1

QD
type: SiteQuality
SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63377336295909e-5
allele num: 61208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.328598e6

FS
type: SiteQuality
SIO_000300: 6.729e0

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 7.38e0

GenotypeQuality
all individuals: 3566
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.978000956480153e-4
allele num: 8364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61246
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.444e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.327307e6

GenotypeQuality
all individuals: 530
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
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GenotypeQuality
all individuals: 7479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645927974191849e-5
allele num: 60756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.003e0

VQSLOD
type: SiteQuality
SIO_000300: -1.816e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.837e1

DP
type: SiteQuality
SIO_000300: 1.309919e6

GenotypeQuality
all individuals: 536
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60722
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.444390124663896e-4
allele num: 8182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 5.157e0

DP
type: SiteQuality
SIO_000300: 1.304209e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 6.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10396
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variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.608242044861763e-4
allele num: 15336
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

QD
type: SiteQuality
SIO_000300: 3.271e1

DP
type: SiteQuality
SIO_000300: 1.271183e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.298e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 31458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.674676278200507e-5
allele num: 14982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.180574e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 2.351e0

QD
type: SiteQuality
SIO_000300: 9.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

GenotypeQuality
all individuals: 828
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.5056967572305e-5
allele num: 57050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14982
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 9.67e0

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 1.180574e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 15680
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.258545135845749e-5
allele num: 57050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14982
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 2.351e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.180574e6

QD
type: SiteQuality
SIO_000300: 9.67e0

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1761
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variant carriers: 0

GenotypeQuality
all individuals: 642
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variant carriers: 0

GenotypeQuality
all individuals: 4193
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variant carriers: 0

GenotypeQuality
all individuals: 24864
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.006179031416763e-5
allele num: 49846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.62594e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.092e1

GenotypeQuality
all individuals: 553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 190
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GenotypeQuality
all individuals: 4451
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variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.012358062833527e-5
allele num: 49846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.62594e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeQuality
all individuals: 531
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 894
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4209
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variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48210
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.39821029082774e-4
allele num: 7152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 9.39975e5

QD
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.189e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 4.463e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.535e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 347
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variant carriers: 0

GenotypeQuality
all individuals: 846
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variant carriers: 1

GenotypeQuality
all individuals: 540
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GenotypeQuality
all individuals: 1549
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GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 9477
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.115685693733339e-5
allele num: 47266
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

DP
type: SiteQuality
SIO_000300: 9.06623e5

MQ
type: SiteQuality
SIO_000300: 5.799e1

VQSLOD
type: SiteQuality
SIO_000300: -2.047e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.391e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 2.969e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

GenotypeQuality
all individuals: 584
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4984
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.704158145875937e-4
allele num: 5868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.134e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

QD
type: SiteQuality
SIO_000300: 2.793e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.75396e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

GenotypeQuality
all individuals: 5068
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

QD
type: SiteQuality
SIO_000300: 1.413e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 8.53541e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 5011
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2822
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25650
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 355
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3418
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 4.570923031554114e-3
allele num: 6782
num of homozygotes: 0

African
type: Population
allele count: 311
allele frequency: 5.529871977240398e-2
allele num: 5624
num of homozygotes: 5

South Asian
type: Population
allele count: 2
allele frequency: 1.503307276007216e-4
allele num: 13304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 50
allele frequency: 1.144426642252232e-3
allele num: 43690
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 8.19672131147541e-3
allele num: 610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.52621e5

QD
type: SiteQuality
SIO_000300: 1.2e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.077e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

GenotypeQuality
all individuals: 25650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.52621e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.077e0

GenotypeQuality
all individuals: 5656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43248
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.307270734380709e-4
allele num: 5474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Latino
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: 13348
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.74657e5

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

FS
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.604e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 137

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 167

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 233

GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 163

GenotypeQuality
all individuals: 427
bin: 8.25e1
variant carriers: 225

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 247

GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 124

East Asian
type: Population
allele count: 2504
allele frequency: 3.916171410697529e-1
allele num: 6394
num of homozygotes: 423

African
type: Population
allele count: 173
allele frequency: 3.160394592619657e-2
allele num: 5474
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 584
allele frequency: 1.738095238095238e-1
allele num: 3360
num of homozygotes: 36

Latino
type: Population
allele count: 1260
allele frequency: 1.913730255164034e-1
allele num: 6584
num of homozygotes: 80

South Asian
type: Population
allele count: 2112
allele frequency: 1.582259514534013e-1
allele num: 13348
num of homozygotes: 168

Other
type: Population
allele count: 107
allele frequency: 1.748366013071895e-1
allele num: 612
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 6391
allele frequency: 1.47775619681835e-1
allele num: 43248
num of homozygotes: 332

FS
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.604e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.01e-2

DP
type: SiteQuality
SIO_000300: 8.74657e5

GenotypeQuality
all individuals: 1495
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.561735261401557e-4
allele num: 5394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12690
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 7.83776e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.052826542116283e-5
allele num: 12418
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.925e1

FS
type: SiteQuality
SIO_000300: 7.104e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 7.58862e5

GenotypeQuality
all individuals: 653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.96078431372549e-4
allele num: 5100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37758
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 7.56903e5

QD
type: SiteQuality
SIO_000300: 6.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.76e-2

FS
type: SiteQuality
SIO_000300: 6.214e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeQuality
all individuals: 29641
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37758
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 7.645259938837921e-4
allele num: 5232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12346
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.56903e5

MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 6.214e0

QD
type: SiteQuality
SIO_000300: 6.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.76e-2

GenotypeQuality
all individuals: 2154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.099789405475457e-5
allele num: 12346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37758
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.214e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

DP
type: SiteQuality
SIO_000300: 7.56903e5

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 6.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.76e-2

GenotypeQuality
all individuals: 2646
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.207505518763797e-4
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11750
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.902e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.445e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 7.07535e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-1

GenotypeQuality
all individuals: 651
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24867
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.41196333815726e-4
allele num: 4146
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 6.74623e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

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: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
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variant carriers: 0

GenotypeQuality
all individuals: 3834
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.520161290322581e-4
allele num: 3968
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 6.621e5

QD
type: SiteQuality
SIO_000300: 1.757e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1833
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.622138510576645e-5
allele num: 27608
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.498e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 6.49724e5

GenotypeQuality
all individuals: 6245
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variant carriers: 0

GenotypeQuality
all individuals: 1014
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1431
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GenotypeQuality
all individuals: 179
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3150
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.14112970018221e-5
allele num: 24148
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.946375957572186e-4
allele num: 3394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10506
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QD
type: SiteQuality
SIO_000300: 1.18e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

DP
type: SiteQuality
SIO_000300: 6.41038e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 6.067961165048543e-5
allele num: 16480
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.114977e6

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 6.074e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.206e1

FS
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.118993e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 5
allele frequency: 5.780346820809249e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

Other
type: Population
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 1.276e0

DP
type: SiteQuality
SIO_000300: 3.121151e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
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Latino
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

East Asian
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allele num: 8652
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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Other
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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African
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East Asian
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allele num: 8654
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VQSLOD
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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East Asian
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European (Non-Finnish)
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African
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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DP
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BaseQRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQRankSum
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DP
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FS
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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BaseQRankSum
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DP
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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European (Non-Finnish)
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African
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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VQSLOD
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FS
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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FS
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VQSLOD
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MQ
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DP
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VQSLOD
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GenotypeQuality
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allele num: 6614
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FS
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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South Asian
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Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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Other
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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BaseQRankSum
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FS
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.494e1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele num: 908
num of homozygotes: 0

African
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allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 29
allele frequency: 4.345350474991759e-4
allele num: 66738
num of homozygotes: 0

South Asian
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allele count: 178
allele frequency: 1.078003875968992e-2
allele num: 16512
num of homozygotes: 2

Latino
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allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 6.1e-1

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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ClippingRankSum
type: SiteQuality
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FS
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QD
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
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num of homozygotes: 0

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

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

South Asian
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allele count: 0
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allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

African
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66732
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Latino
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num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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VQSLOD
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.617234083477592e-5
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South Asian
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European (Non-Finnish)
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allele count: 0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

Other
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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DP
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 4

East Asian
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num of homozygotes: 0

Latino
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 3.003544182134919e-5
allele num: 66588
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European (Finnish)
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allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 5

European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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Other
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MQRankSum
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SIO_000300: -8.2e-2

BaseQRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Other
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VQSLOD
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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SIO_000300: -5.0e-1

BaseQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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African
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.637070305752289e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.300854e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele num: 66684
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African
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South Asian
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European (Finnish)
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Other
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East Asian
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Latino
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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Other
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 6.909656244601831e-4
allele num: 11578
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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FS
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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MQRankSum
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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Latino
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African
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European (Finnish)
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East Asian
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South Asian
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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