12-132428144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428144
    reference: chr 12
allele count: 4
allele frequency: 3.316419593406958e-5
allele num: 120612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*13T>C
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*13T>C
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1118T>C
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*13T>C
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*13T>C
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*13T>C
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27105
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-132428147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428147
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428147
    reference: chr 12
allele count: 603
allele frequency: 5.000912272553865e-3
allele num: 120578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*16C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1121C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 6.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 5.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 5.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 17
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-132428155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428155
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428155
    reference: chr 12
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*24G>A
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1129G>A
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*24G>A
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*24G>A
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*24G>A
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-132428156-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428156
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428156
    reference: chr 12
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*25T>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1130T>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*25T>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*25T>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*25T>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*25T>G
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

12-132428159-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428159
    reference: chr 12
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*28C>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*28C>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1133C>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*28C>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*28C>G
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*28C>G
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26817
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

12-132428171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428171
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428171
    reference: chr 12
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*40C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*40C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*40C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*40C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1145C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 6407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
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genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-132428173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428173
    reference: chr 12
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*42C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1147C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
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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 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: 4627
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-132428182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132428182
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132428182
    reference: chr 12
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000400032
  ensembl transcript: ENST00000440818
  gene symbol: PUS1
  hgvsc: ENST00000440818.2:c.*51C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000438948
  ensembl transcript: ENST00000542167
  gene symbol: PUS1
  hgvsc: ENST00000542167.2:c.*51C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000392451
  ensembl transcript: ENST00000443358
  gene symbol: PUS1
  hgvsc: ENST00000443358.2:c.*51C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000365837
  ensembl transcript: ENST00000376649
  gene symbol: PUS1
  hgvsc: ENST00000376649.3:c.*51C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177192
  ensembl transcript: ENST00000543754
  gene symbol: PUS1
  hgvsc: ENST00000543754.1:n.1156C>T
  variant of: http://identifiers.org/hgnc/15508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177192
  ensembl protein: ENSP00000443969
  ensembl transcript: ENST00000535067
  gene symbol: PUS1
  hgvsc: ENST00000535067.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/15508
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  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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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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  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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-132445114-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445114
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445114
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 19908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.-35-16T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.-35-16T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.-35-16T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.-35-16T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.-35-16T>C
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22789
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10588
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17735
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
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: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-132445134-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445134
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445134
    reference: chr 12
allele count: 1
allele frequency: 4.559963520291838e-5
allele num: 21930
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.-31A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.-31A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.-31A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.-31A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.-31A>G
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-132445141-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445141
    reference: chr 12
allele count: 1
allele frequency: 4.097353109891011e-5
allele num: 24406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.-24A>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.-24A>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.-24A>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.-24A>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.-24A>C
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 697
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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: 1648
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

12-132445153-A-AGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445153
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445155
    reference: chr 12
allele count: 1
allele frequency: 3.56938892061679e-5
allele num: 28016
alternate allele: AGG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.-10_-9dupGG
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.-10_-9dupGG
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.-10_-9dupGG
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.-10_-9dupGG
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.-10_-9dupGG
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12068
  bin: 7.5e0
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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
  all individuals: 6820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-132445153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445153
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445153
    reference: chr 12
allele count: 1
allele frequency: 3.56938892061679e-5
allele num: 28016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.-12A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.-12A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.-12A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.-12A>G
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.-12A>G
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12068
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-132445158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445158
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445158
    reference: chr 12
allele count: 734
allele frequency: 2.384975305432805e-2
allele num: 30776
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.-7G>A
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.-7G>A
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.-7G>A
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.-7G>A
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.-7G>A
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32930
  bin: 7.5e0
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 2.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 1.25e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 2.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 31587
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 6.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 10750
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 12
num of homozygotes: 4
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

12-132445163-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445163
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445163
    reference: chr 12
allele count: 5
allele frequency: 1.520496289989053e-4
allele num: 32884
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.-2T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.-2T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.-2T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.-2T>C
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.-2T>C
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-132445176-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445176
    reference: chr 12
allele count: 7
allele frequency: 1.88506490009156e-4
allele num: 37134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.12C>A
  hgvsp: ENST00000330386.6:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.12C>A
  hgvsp: ENST00000389561.2:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.12C>A
  hgvsp: ENST00000332482.4:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.12C>A
  hgvsp: ENST00000389562.2:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.12C>A
  hgvsp: ENST00000333577.4:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31954
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly4Gly
num of homozygotes: 1
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-132445176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445176
    reference: chr 12
allele count: 3
allele frequency: 8.078849571820973e-5
allele num: 37134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.12C>T
  hgvsp: ENST00000333577.4:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.12C>T
  hgvsp: ENST00000330386.6:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.12C>T
  hgvsp: ENST00000389562.2:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.12C>T
  hgvsp: ENST00000332482.4:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.12C>T
  hgvsp: ENST00000389561.2:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly4Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-132445185-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445185
    reference: chr 12
allele count: 2
allele frequency: 5.095541401273886e-5
allele num: 39250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.21C>A
  hgvsp: ENST00000332482.4:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.21C>A
  hgvsp: ENST00000333577.4:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.21C>A
  hgvsp: ENST00000389562.2:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.21C>A
  hgvsp: ENST00000330386.6:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.21C>A
  hgvsp: ENST00000389561.2:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31118
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro7Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-132445192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445192
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445192
    reference: chr 12
allele count: 1
allele frequency: 2.475002475002475e-5
allele num: 40404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.28G>A
  hgvsp: ENSP00000333602.4:p.Val10Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.28G>A
  hgvsp: ENSP00000331737.4:p.Val10Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.28G>A
  hgvsp: ENSP00000374213.2:p.Val10Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.28G>A
  hgvsp: ENSP00000330620.6:p.Val10Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.28G>A
  hgvsp: ENSP00000374212.2:p.Val10Ile
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val10Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-132445215-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445215
    reference: chr 12
allele count: 3
allele frequency: 7.097232079489e-5
allele num: 42270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.51C>A
  hgvsp: ENST00000330386.6:c.51C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.51C>A
  hgvsp: ENST00000389562.2:c.51C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.51C>A
  hgvsp: ENST00000333577.4:c.51C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.51C>A
  hgvsp: ENST00000332482.4:c.51C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.51C>A
  hgvsp: ENST00000389561.2:c.51C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27994
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11029
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser17Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-132445223-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445223
    reference: chr 12
allele count: 10
allele frequency: 2.352609043429163e-4
allele num: 42506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.59G>T
  hgvsp: ENSP00000374213.2:p.Cys20Phe
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.59G>T
  hgvsp: ENSP00000333602.4:p.Cys20Phe
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.59G>T
  hgvsp: ENSP00000331737.4:p.Cys20Phe
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.59G>T
  hgvsp: ENSP00000374212.2:p.Cys20Phe
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.59G>T
  hgvsp: ENSP00000330620.6:p.Cys20Phe
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26549
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Cys20Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-132445234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445234
    reference: chr 12
allele count: 1
allele frequency: 2.284356725146199e-5
allele num: 43776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.70G>C
  hgvsp: ENSP00000331737.4:p.Glu24Gln
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.70G>C
  hgvsp: ENSP00000330620.6:p.Glu24Gln
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.70G>C
  hgvsp: ENSP00000333602.4:p.Glu24Gln
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.70G>C
  hgvsp: ENSP00000374212.2:p.Glu24Gln
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.70G>C
  hgvsp: ENSP00000374213.2:p.Glu24Gln
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu24Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-132445244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445244
    reference: chr 12
allele count: 1
allele frequency: 2.481266438390154e-5
allele num: 40302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.80A>G
  hgvsp: ENSP00000333602.4:p.Glu27Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.80A>G
  hgvsp: ENSP00000374212.2:p.Glu27Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.80A>G
  hgvsp: ENSP00000331737.4:p.Glu27Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.80A>G
  hgvsp: ENSP00000374213.2:p.Glu27Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.80A>G
  hgvsp: ENSP00000330620.6:p.Glu27Gly
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu27Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-132445250-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445250
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445251
    reference: chr 12
allele count: 15
allele frequency: 5.870841487279843e-4
allele num: 25550
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.88dupG
  hgvsp: ENSP00000330620.6:p.Ala30GlyfsTer35
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.88dupG
  hgvsp: ENSP00000374213.2:p.Ala30GlyfsTer35
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.88dupG
  hgvsp: ENSP00000331737.4:p.Ala30GlyfsTer35
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.88dupG
  hgvsp: ENSP00000374212.2:p.Ala30GlyfsTer35
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.88dupG
  hgvsp: ENSP00000333602.4:p.Ala30GlyfsTer35
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11603
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19996
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7371
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10722
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20288
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 6
hgvs: p.Ala30GlyfsTer35
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-132445250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445250
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445250
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.86C>T
  hgvsp: ENSP00000333602.4:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.86C>T
  hgvsp: ENSP00000330620.6:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.86C>T
  hgvsp: ENSP00000331737.4:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.86C>T
  hgvsp: ENSP00000374213.2:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.86C>T
  hgvsp: ENSP00000374212.2:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19996
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10722
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro29Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-132445251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445251
    reference: chr 12
allele count: 2
allele frequency: 7.825338445887784e-5
allele num: 25558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.87G>A
  hgvsp: ENST00000333577.4:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.87G>A
  hgvsp: ENST00000389562.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.87G>A
  hgvsp: ENST00000332482.4:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.87G>A
  hgvsp: ENST00000330386.6:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.87G>A
  hgvsp: ENST00000389561.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20154
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro29Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-132445252-G-GGCCCCCCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445262
    reference: chr 12
allele count: 1
allele frequency: 4.155930512841825e-5
allele num: 24062
alternate allele: GGCCCCCCCCC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.88_89insGCCCCCCCCC
  hgvsp: ENSP00000374212.2:p.Ala30GlyfsTer38
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.88_89insGCCCCCCCCC
  hgvsp: ENSP00000333602.4:p.Ala30GlyfsTer38
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.88_89insGCCCCCCCCC
  hgvsp: ENSP00000374213.2:p.Ala30GlyfsTer38
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.88_89insGCCCCCCCCC
  hgvsp: ENSP00000330620.6:p.Ala30GlyfsTer38
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.88_89insGCCCCCCCCC
  hgvsp: ENSP00000331737.4:p.Ala30GlyfsTer38
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12072
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala30GlyfsTer38
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-132445252-G-GGCCCCCCCCCCCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445267
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 24062
alternate allele: GGCCCCCCCCCCCCCC
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20411
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12072
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala30delinsGlyProProProProPro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-132445253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445253
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445253
    reference: chr 12
allele count: 8
allele frequency: 5.897965202005308e-4
allele num: 13564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.89C>G
  hgvsp: ENSP00000333602.4:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.89C>G
  hgvsp: ENSP00000374213.2:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.89C>G
  hgvsp: ENSP00000374212.2:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.89C>G
  hgvsp: ENSP00000330620.6:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.89C>G
  hgvsp: ENSP00000331737.4:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20231
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13827
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24092
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ala30Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-132445255-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445255
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445254
    reference: chr 12
allele count: 1
allele frequency: 3.221857078420001e-5
allele num: 31038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.92delA
  hgvsp: ENSP00000333602.4:p.His31ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.92delA
  hgvsp: ENSP00000330620.6:p.His31ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.92delA
  hgvsp: ENSP00000331737.4:p.His31ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.92delA
  hgvsp: ENSP00000374213.2:p.His31ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.92delA
  hgvsp: ENSP00000374212.2:p.His31ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His31ProfsTer31
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-132445256-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445256
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445256
    reference: chr 12
allele count: 258
allele frequency: 3.850746268656716e-2
allele num: 6700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.92A>C
  hgvsp: ENSP00000333602.4:p.His31Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.92A>C
  hgvsp: ENSP00000374212.2:p.His31Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.92A>C
  hgvsp: ENSP00000330620.6:p.His31Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.92A>C
  hgvsp: ENSP00000331737.4:p.His31Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.92A>C
  hgvsp: ENSP00000374213.2:p.His31Pro
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 9681
  bin: 2.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 1.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 1.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 19150
  bin: 7.5e0
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10208
  bin: 7.5e0
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 35354
  bin: 2.5e0
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.25e1
  variant carriers: 72
hgvs: p.His31Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-132445259-CCAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445256
    reference: chr 12
allele count: 1
allele frequency: 1.896957280522043e-5
allele num: 52716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.97_99delAAC
  hgvsp: ENSP00000374213.2:p.Asn33del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.97_99delAAC
  hgvsp: ENSP00000374212.2:p.Asn33del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.97_99delAAC
  hgvsp: ENSP00000331737.4:p.Asn33del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.97_99delAAC
  hgvsp: ENSP00000330620.6:p.Asn33del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.97_99delAAC
  hgvsp: ENSP00000333602.4:p.Asn33del
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17636
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16596
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn33del
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: CCAA
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-132445260-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445258
    reference: chr 12
allele count: 24
allele frequency: 4.339649934905251e-4
allele num: 55304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.97_98delAA
  hgvsp: ENSP00000331737.4:p.Asn33ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.97_98delAA
  hgvsp: ENSP00000330620.6:p.Asn33ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.97_98delAA
  hgvsp: ENSP00000333602.4:p.Asn33ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.97_98delAA
  hgvsp: ENSP00000374213.2:p.Asn33ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.97_98delAA
  hgvsp: ENSP00000374212.2:p.Asn33ProfsTer31
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 16804
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15261
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn33ProfsTer31
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: CAA
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-132445260-CAACCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445254
    reference: chr 12
allele count: 7
allele frequency: 1.265731231014031e-4
allele num: 55304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.97_102delAACCCA
  hgvsp: ENSP00000374213.2:p.Asn33_Pro34del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.97_102delAACCCA
  hgvsp: ENSP00000374212.2:p.Asn33_Pro34del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.97_102delAACCCA
  hgvsp: ENSP00000331737.4:p.Asn33_Pro34del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.97_102delAACCCA
  hgvsp: ENSP00000330620.6:p.Asn33_Pro34del
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.97_102delAACCCA
  hgvsp: ENSP00000333602.4:p.Asn33_Pro34del
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16804
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Asn33_Pro34del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: CAACCCA
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/12-132445261-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445261
    reference: chr 12
allele count: 68
allele frequency: 6.099748833871547e-3
allele num: 11148
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.97A>C
  hgvsp: ENSP00000374212.2:p.Asn33His
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.97A>C
  hgvsp: ENSP00000333602.4:p.Asn33His
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.97A>C
  hgvsp: ENSP00000374213.2:p.Asn33His
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.97A>C
  hgvsp: ENSP00000331737.4:p.Asn33His
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.97A>C
  hgvsp: ENSP00000330620.6:p.Asn33His
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 1.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 36495
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6764
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 9
hgvs: p.Asn33His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-132445262-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445262
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445262
    reference: chr 12
allele count: 2
allele frequency: 6.217358865953743e-5
allele num: 32168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.98A>C
  hgvsp: ENSP00000331737.4:p.Asn33Thr
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.98A>C
  hgvsp: ENSP00000374213.2:p.Asn33Thr
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.98A>C
  hgvsp: ENSP00000330620.6:p.Asn33Thr
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.98A>C
  hgvsp: ENSP00000374212.2:p.Asn33Thr
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.98A>C
  hgvsp: ENSP00000333602.4:p.Asn33Thr
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15981
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19835
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9995
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn33Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-132445266-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445266
    reference: chr 12
allele count: 24
allele frequency: 6.788866259334691e-4
allele num: 35352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.102A>C
  hgvsp: ENST00000333577.4:c.102A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.102A>C
  hgvsp: ENST00000389561.2:c.102A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.102A>C
  hgvsp: ENST00000330386.6:c.102A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.102A>C
  hgvsp: ENST00000332482.4:c.102A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.102A>C
  hgvsp: ENST00000389562.2:c.102A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10738
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13593
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21071
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7264
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Pro34Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-132445271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445271
    reference: chr 12
allele count: 6
allele frequency: 6.371320562375228e-5
allele num: 94172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.107C>T
  hgvsp: ENSP00000330620.6:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.107C>T
  hgvsp: ENSP00000374213.2:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.107C>T
  hgvsp: ENSP00000331737.4:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.107C>T
  hgvsp: ENSP00000374212.2:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.107C>T
  hgvsp: ENSP00000333602.4:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro36Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-132445271-CGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445269
    reference: chr 12
allele count: 13
allele frequency: 1.380452788514633e-4
allele num: 94172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.108_109delGT
  hgvsp: ENSP00000374212.2:p.Ser37ProfsTer27
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.108_109delGT
  hgvsp: ENSP00000330620.6:p.Ser37ProfsTer27
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.108_109delGT
  hgvsp: ENSP00000374213.2:p.Ser37ProfsTer27
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.108_109delGT
  hgvsp: ENSP00000333602.4:p.Ser37ProfsTer27
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.108_109delGT
  hgvsp: ENSP00000331737.4:p.Ser37ProfsTer27
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15149
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser37ProfsTer27
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: CGT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

12-132445272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445272
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445272
    reference: chr 12
allele count: 5
allele frequency: 1.203079884504331e-4
allele num: 41560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.108G>A
  hgvsp: ENST00000389561.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.108G>A
  hgvsp: ENST00000332482.4:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.108G>A
  hgvsp: ENST00000389562.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.108G>A
  hgvsp: ENST00000333577.4:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.108G>A
  hgvsp: ENST00000330386.6:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 25634
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro36Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-132445272-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445272
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445272
    reference: chr 12
allele count: 9
allele frequency: 2.165543792107796e-4
allele num: 41560
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.108G>C
  hgvsp: ENST00000389561.2:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.108G>C
  hgvsp: ENST00000330386.6:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.108G>C
  hgvsp: ENST00000333577.4:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.108G>C
  hgvsp: ENST00000332482.4:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.108G>C
  hgvsp: ENST00000389562.2:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25634
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro36Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-132445273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445273
    reference: chr 12
allele count: 9
allele frequency: 1.731968285736279e-4
allele num: 51964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.109T>C
  hgvsp: ENSP00000374213.2:p.Ser37Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.109T>C
  hgvsp: ENSP00000333602.4:p.Ser37Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.109T>C
  hgvsp: ENSP00000331737.4:p.Ser37Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.109T>C
  hgvsp: ENSP00000374212.2:p.Ser37Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.109T>C
  hgvsp: ENSP00000330620.6:p.Ser37Pro
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21522
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser37Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-132445278-CGCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445274
    reference: chr 12
allele count: 2
allele frequency: 1.808907058355342e-5
allele num: 110564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.115_118delGCAG
  hgvsp: ENSP00000331737.4:p.Ala39LeufsTer22
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.115_118delGCAG
  hgvsp: ENSP00000330620.6:p.Ala39LeufsTer22
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.115_118delGCAG
  hgvsp: ENSP00000333602.4:p.Ala39LeufsTer22
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.115_118delGCAG
  hgvsp: ENSP00000374213.2:p.Ala39LeufsTer22
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.115_118delGCAG
  hgvsp: ENSP00000374212.2:p.Ala39LeufsTer22
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26602
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala39LeufsTer22
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: CGCAG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-132445279-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445279
    reference: chr 12
allele count: 11
allele frequency: 1.459699036598636e-4
allele num: 75358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.115G>C
  hgvsp: ENSP00000374212.2:p.Ala39Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.115G>C
  hgvsp: ENSP00000333602.4:p.Ala39Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.115G>C
  hgvsp: ENSP00000330620.6:p.Ala39Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.115G>C
  hgvsp: ENSP00000331737.4:p.Ala39Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.115G>C
  hgvsp: ENSP00000374213.2:p.Ala39Pro
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14790
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala39Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-132445280-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445278
    reference: chr 12
allele count: 2
allele frequency: 1.783039726125098e-5
allele num: 112168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.117_118delAG
  hgvsp: ENSP00000331737.4:p.Ala40SerfsTer24
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.117_118delAG
  hgvsp: ENSP00000374212.2:p.Ala40SerfsTer24
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.117_118delAG
  hgvsp: ENSP00000330620.6:p.Ala40SerfsTer24
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.117_118delAG
  hgvsp: ENSP00000374213.2:p.Ala40SerfsTer24
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.117_118delAG
  hgvsp: ENSP00000333602.4:p.Ala40SerfsTer24
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15077
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10716
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala40SerfsTer24
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: CAG
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-132445281-A-AGCTCCCTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445290
    reference: chr 12
allele count: 1
allele frequency: 1.078050884001725e-5
allele num: 92760
alternate allele: AGCTCCCTTC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.125_133dupTCGCTCCCT
  hgvsp: ENSP00000330620.6:p.Phe42_Pro44dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.125_133dupTCGCTCCCT
  hgvsp: ENSP00000374212.2:p.Phe42_Pro44dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.125_133dupTCGCTCCCT
  hgvsp: ENSP00000333602.4:p.Phe42_Pro44dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.125_133dupTCGCTCCCT
  hgvsp: ENSP00000331737.4:p.Phe42_Pro44dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.125_133dupTCGCTCCCT
  hgvsp: ENSP00000374213.2:p.Phe42_Pro44dup
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7795
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe42_Pro44dup
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-132445281-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445281
    reference: chr 12
allele count: 7
allele frequency: 7.546356188012074e-5
allele num: 92760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.117A>C
  hgvsp: ENST00000389562.2:c.117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.117A>C
  hgvsp: ENST00000330386.6:c.117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.117A>C
  hgvsp: ENST00000332482.4:c.117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.117A>C
  hgvsp: ENST00000389561.2:c.117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.117A>C
  hgvsp: ENST00000333577.4:c.117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29856
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7795
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala39Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-132445282-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445282
    reference: chr 12
allele count: 7
allele frequency: 6.888678948197134e-5
allele num: 101616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.118G>C
  hgvsp: ENSP00000330620.6:p.Ala40Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.118G>C
  hgvsp: ENSP00000374213.2:p.Ala40Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.118G>C
  hgvsp: ENSP00000374212.2:p.Ala40Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.118G>C
  hgvsp: ENSP00000333602.4:p.Ala40Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.118G>C
  hgvsp: ENSP00000331737.4:p.Ala40Pro
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34515
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala40Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-132445284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445284
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445284
    reference: chr 12
allele count: 11
allele frequency: 1.046443044958998e-4
allele num: 105118
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.120T>C
  hgvsp: ENST00000389561.2:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.120T>C
  hgvsp: ENST00000332482.4:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.120T>C
  hgvsp: ENST00000333577.4:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.120T>C
  hgvsp: ENST00000330386.6:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.120T>C
  hgvsp: ENST00000389562.2:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19764
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37723
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala40Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

12-132445288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445288
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445288
    reference: chr 12
allele count: 1
allele frequency: 9.092231597323247e-6
allele num: 109984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.124T>C
  hgvsp: ENSP00000333602.4:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.124T>C
  hgvsp: ENSP00000374212.2:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.124T>C
  hgvsp: ENSP00000330620.6:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.124T>C
  hgvsp: ENSP00000331737.4:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.124T>C
  hgvsp: ENSP00000374213.2:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe42Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

12-132445289-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445289
    reference: chr 12
allele count: 1
allele frequency: 8.859436185481156e-6
allele num: 112874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.125T>C
  hgvsp: ENSP00000331737.4:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.125T>C
  hgvsp: ENSP00000330620.6:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.125T>C
  hgvsp: ENSP00000374213.2:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.125T>C
  hgvsp: ENSP00000374212.2:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.125T>C
  hgvsp: ENSP00000333602.4:p.Phe42Ser
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe42Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-132445289-T-TCGCTCCCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445298
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 112874
alternate allele: TCGCTCCCTC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.126_134dupCGCTCCCTC
  hgvsp: ENSP00000330620.6:p.Ala43_Ser45dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.126_134dupCGCTCCCTC
  hgvsp: ENSP00000374212.2:p.Ala43_Ser45dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.126_134dupCGCTCCCTC
  hgvsp: ENSP00000374213.2:p.Ala43_Ser45dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.126_134dupCGCTCCCTC
  hgvsp: ENSP00000331737.4:p.Ala43_Ser45dup
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.126_134dupCGCTCCCTC
  hgvsp: ENSP00000333602.4:p.Ala43_Ser45dup
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala43_Ser45dup
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-132445291-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445291
    reference: chr 12
allele count: 1
allele frequency: 8.782561346191003e-6
allele num: 113862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.127G>C
  hgvsp: ENSP00000333602.4:p.Ala43Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.127G>C
  hgvsp: ENSP00000374213.2:p.Ala43Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.127G>C
  hgvsp: ENSP00000330620.6:p.Ala43Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.127G>C
  hgvsp: ENSP00000374212.2:p.Ala43Pro
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.127G>C
  hgvsp: ENSP00000331737.4:p.Ala43Pro
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala43Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

12-132445292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445292
    reference: chr 12
allele count: 1
allele frequency: 8.703826201998399e-6
allele num: 114892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.128C>T
  hgvsp: ENSP00000331737.4:p.Ala43Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.128C>T
  hgvsp: ENSP00000330620.6:p.Ala43Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.128C>T
  hgvsp: ENSP00000374212.2:p.Ala43Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.128C>T
  hgvsp: ENSP00000333602.4:p.Ala43Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.128C>T
  hgvsp: ENSP00000374213.2:p.Ala43Val
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala43Val
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

12-132445293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445293
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445293
    reference: chr 12
allele count: 1
allele frequency: 8.719155985700584e-6
allele num: 114690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.129T>C
  hgvsp: ENST00000333577.4:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.129T>C
  hgvsp: ENST00000332482.4:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.129T>C
  hgvsp: ENST00000389561.2:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.129T>C
  hgvsp: ENST00000389562.2:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.129T>C
  hgvsp: ENST00000330386.6:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala43Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-132445294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445294
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445294
    reference: chr 12
allele count: 1
allele frequency: 8.681309141418526e-6
allele num: 115190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.130C>T
  hgvsp: ENSP00000374212.2:p.Pro44Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.130C>T
  hgvsp: ENSP00000331737.4:p.Pro44Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.130C>T
  hgvsp: ENSP00000333602.4:p.Pro44Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.130C>T
  hgvsp: ENSP00000330620.6:p.Pro44Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.130C>T
  hgvsp: ENSP00000374213.2:p.Pro44Ser
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro44Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-132445307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445307
    reference: chr 12
allele count: 2
allele frequency: 1.723127821621808e-5
allele num: 116068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.143C>T
  hgvsp: ENSP00000333602.4:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.143C>T
  hgvsp: ENSP00000374213.2:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.143C>T
  hgvsp: ENSP00000374212.2:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.143C>T
  hgvsp: ENSP00000331737.4:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.143C>T
  hgvsp: ENSP00000330620.6:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro48Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-132445308-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445308
    reference: chr 12
allele count: 1
allele frequency: 8.600522911793038e-6
allele num: 116272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.144G>C
  hgvsp: ENST00000389561.2:c.144G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.144G>C
  hgvsp: ENST00000332482.4:c.144G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.144G>C
  hgvsp: ENST00000389562.2:c.144G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.144G>C
  hgvsp: ENST00000330386.6:c.144G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.144G>C
  hgvsp: ENST00000333577.4:c.144G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro48Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-132445310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445310
    reference: chr 12
allele count: 1
allele frequency: 8.589146754161442e-6
allele num: 116426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.146C>T
  hgvsp: ENSP00000333602.4:p.Ser49Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.146C>T
  hgvsp: ENSP00000331737.4:p.Ser49Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.146C>T
  hgvsp: ENSP00000330620.6:p.Ser49Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.146C>T
  hgvsp: ENSP00000374213.2:p.Ser49Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.146C>T
  hgvsp: ENSP00000374212.2:p.Ser49Leu
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24190
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser49Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

12-132445311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445311
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445311
    reference: chr 12
allele count: 3
allele frequency: 2.572369323638359e-5
allele num: 116624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.147G>A
  hgvsp: ENST00000330386.6:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.147G>A
  hgvsp: ENST00000389561.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.147G>A
  hgvsp: ENST00000333577.4:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.147G>A
  hgvsp: ENST00000332482.4:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.147G>A
  hgvsp: ENST00000389562.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47573
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser49Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-132445315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445315
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445315
    reference: chr 12
allele count: 2
allele frequency: 1.710659116957764e-5
allele num: 116914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.151C>T
  hgvsp: ENSP00000374213.2:p.Pro51Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.151C>T
  hgvsp: ENSP00000331737.4:p.Pro51Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.151C>T
  hgvsp: ENSP00000330620.6:p.Pro51Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.151C>T
  hgvsp: ENSP00000333602.4:p.Pro51Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.151C>T
  hgvsp: ENSP00000374212.2:p.Pro51Ser
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 333
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genotype quality: GenotypeQuality
  all individuals: 1359
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7267
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro51Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-132445320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445320
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445320
    reference: chr 12
allele count: 2
allele frequency: 1.706047939947113e-5
allele num: 117230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.156G>A
  hgvsp: ENST00000332482.4:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.156G>A
  hgvsp: ENST00000389562.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.156G>A
  hgvsp: ENST00000389561.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.156G>A
  hgvsp: ENST00000333577.4:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.156G>A
  hgvsp: ENST00000330386.6:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18743
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genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
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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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Gln52Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-132445334-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445334
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445334
    reference: chr 12
allele count: 2
allele frequency: 1.69704374978787e-5
allele num: 117852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.170A>G
  hgvsp: ENSP00000330620.6:p.Gln57Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.170A>G
  hgvsp: ENSP00000374212.2:p.Gln57Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.170A>G
  hgvsp: ENSP00000331737.4:p.Gln57Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.170A>G
  hgvsp: ENSP00000374213.2:p.Gln57Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.170A>G
  hgvsp: ENSP00000333602.4:p.Gln57Arg
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln57Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-132445343-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445343
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445343
    reference: chr 12
allele count: 2
allele frequency: 1.691274713751755e-5
allele num: 118254
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.179A>G
  hgvsp: ENSP00000374212.2:p.Gln60Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.179A>G
  hgvsp: ENSP00000374213.2:p.Gln60Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.179A>G
  hgvsp: ENSP00000333602.4:p.Gln60Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.179A>G
  hgvsp: ENSP00000331737.4:p.Gln60Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.179A>G
  hgvsp: ENSP00000330620.6:p.Gln60Arg
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln60Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-132445350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445350
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445350
    reference: chr 12
allele count: 1
allele frequency: 8.443236123541432e-6
allele num: 118438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.186G>A
  hgvsp: ENSP00000374213.2:p.Met62Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.186G>A
  hgvsp: ENSP00000333602.4:p.Met62Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.186G>A
  hgvsp: ENSP00000374212.2:p.Met62Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.186G>A
  hgvsp: ENSP00000331737.4:p.Met62Ile
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.186G>A
  hgvsp: ENSP00000330620.6:p.Met62Ile
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met62Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-132445352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445352
    reference: chr 12
allele count: 2
allele frequency: 1.687592817604968e-5
allele num: 118512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.188A>G
  hgvsp: ENSP00000331737.4:p.Asn63Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.188A>G
  hgvsp: ENSP00000330620.6:p.Asn63Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.188A>G
  hgvsp: ENSP00000374212.2:p.Asn63Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.188A>G
  hgvsp: ENSP00000374213.2:p.Asn63Ser
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.188A>G
  hgvsp: ENSP00000333602.4:p.Asn63Ser
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn63Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-132445368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445368
    reference: chr 12
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.204C>T
  hgvsp: ENST00000330386.6:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.204C>T
  hgvsp: ENST00000333577.4:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.204C>T
  hgvsp: ENST00000389562.2:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.204C>T
  hgvsp: ENST00000332482.4:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.204C>T
  hgvsp: ENST00000389561.2:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr68Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

12-132445369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445369
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445369
    reference: chr 12
allele count: 2
allele frequency: 1.680276909634708e-5
allele num: 119028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.205G>A
  hgvsp: ENSP00000374213.2:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.205G>A
  hgvsp: ENSP00000374212.2:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.205G>A
  hgvsp: ENSP00000330620.6:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.205G>A
  hgvsp: ENSP00000331737.4:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.205G>A
  hgvsp: ENSP00000333602.4:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly69Arg
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: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-132445377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445377
    reference: chr 12
allele count: 1
allele frequency: 8.376191513242758e-6
allele num: 119386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.213C>T
  hgvsp: ENST00000389562.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.213C>T
  hgvsp: ENST00000389561.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.213C>T
  hgvsp: ENST00000333577.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.213C>T
  hgvsp: ENST00000332482.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.213C>T
  hgvsp: ENST00000330386.6:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn71Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-132445378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445378
    reference: chr 12
allele count: 40
allele frequency: 3.348232970050056e-4
allele num: 119466
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.214G>A
  hgvsp: ENSP00000374212.2:p.Val72Met
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.214G>A
  hgvsp: ENSP00000374213.2:p.Val72Met
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.214G>A
  hgvsp: ENSP00000333602.4:p.Val72Met
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.214G>A
  hgvsp: ENSP00000330620.6:p.Val72Met
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.214G>A
  hgvsp: ENSP00000331737.4:p.Val72Met
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val72Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

12-132445378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445378
    reference: chr 12
allele count: 1
allele frequency: 8.37058242512514e-6
allele num: 119466
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.214G>C
  hgvsp: ENSP00000374212.2:p.Val72Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.214G>C
  hgvsp: ENSP00000330620.6:p.Val72Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.214G>C
  hgvsp: ENSP00000374213.2:p.Val72Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.214G>C
  hgvsp: ENSP00000331737.4:p.Val72Leu
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.214G>C
  hgvsp: ENSP00000333602.4:p.Val72Leu
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val72Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-132445380-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445380
    reference: chr 12
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.216G>C
  hgvsp: ENST00000389562.2:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.216G>C
  hgvsp: ENST00000333577.4:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.216G>C
  hgvsp: ENST00000330386.6:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.216G>C
  hgvsp: ENST00000332482.4:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.216G>C
  hgvsp: ENST00000389561.2:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19468
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val72Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-132445383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445383
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445383
    reference: chr 12
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.219C>T
  hgvsp: ENST00000333577.4:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.219C>T
  hgvsp: ENST00000389561.2:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.219C>T
  hgvsp: ENST00000389562.2:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.219C>T
  hgvsp: ENST00000332482.4:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.219C>T
  hgvsp: ENST00000330386.6:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn73Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

12-132445384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 132445384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 132445384
    reference: chr 12
allele count: 1
allele frequency: 8.358688020328329e-6
allele num: 119636
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374212
  ensembl transcript: ENST00000389561
  gene symbol: EP400
  hgvsc: ENST00000389561.2:c.220A>G
  hgvsp: ENSP00000374212.2:p.Ile74Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000331737
  ensembl transcript: ENST00000332482
  gene symbol: EP400
  hgvsc: ENST00000332482.4:c.220A>G
  hgvsp: ENSP00000331737.4:p.Ile74Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000374213
  ensembl transcript: ENST00000389562
  gene symbol: EP400
  hgvsc: ENST00000389562.2:c.220A>G
  hgvsp: ENSP00000374213.2:p.Ile74Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000333602
  ensembl transcript: ENST00000333577
  gene symbol: EP400
  hgvsc: ENST00000333577.4:c.220A>G
  hgvsp: ENSP00000333602.4:p.Ile74Val
  variant of: http://identifiers.org/hgnc/11958
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183495
  ensembl protein: ENSP00000330620
  ensembl transcript: ENST00000330386
  gene symbol: EP400
  hgvsc: ENST00000330386.6:c.220A>G
  hgvsp: ENSP00000330620.6:p.Ile74Val
  variant of: http://identifiers.org/hgnc/11958
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile74Val
num of homozygotes: 0
reference allele: A

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

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4644
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.426889940541196e-4
allele num: 16482
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.738868e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.203e0

QD
type: SiteQuality
SIO_000300: 1.132e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 2400
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 305
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5402
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27185
bin: 9.75e1
variant carriers: 583

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

Latino
type: Population
allele count: 27
allele frequency: 2.341717259323504e-3
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 557
allele frequency: 5.422507788161994e-2
allele num: 10272
num of homozygotes: 17

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.265518803806072e-4
allele num: 66210
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.738043e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 2.454e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.53e-2

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.715999e6

FS
type: SiteQuality
SIO_000300: 4.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.404e0

VQSLOD
type: SiteQuality
SIO_000300: -8.653999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.73e1

GenotypeQuality
all individuals: 4650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4672
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.715793e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.834e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.028e1

FS
type: SiteQuality
SIO_000300: 1.2875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.347e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

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

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.709786e6

FS
type: SiteQuality
SIO_000300: 2.169e0

QD
type: SiteQuality
SIO_000300: 1.485e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.507e0

GenotypeQuality
all individuals: 4630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26798
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 5.971e0

DP
type: SiteQuality
SIO_000300: 2.694889e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
SIO_000300: 1.641e1

VQSLOD
type: SiteQuality
SIO_000300: -1.063e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

GenotypeQuality
all individuals: 2685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26797
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.691549e6

FS
type: SiteQuality
SIO_000300: 5.007e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.477e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
all individuals: 26781
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65854
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -1.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.024e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

DP
type: SiteQuality
SIO_000300: 2.677161e6

QD
type: SiteQuality
SIO_000300: 7.01e0

GenotypeQuality
all individuals: 51
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.562e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 3.91274e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.810975609756098e-4
allele num: 2624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.906e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

QD
type: SiteQuality
SIO_000300: 1.282e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.62829e5

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.493428912783751e-4
allele num: 6696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.175e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.448e0

QD
type: SiteQuality
SIO_000300: 1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 5.09278e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.800312012480499e-5
allele num: 12820
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

MQ
type: SiteQuality
SIO_000300: 6.164e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.60634e5

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.211303789338471e-4
allele num: 3114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

MQ
type: SiteQuality
SIO_000300: 6.164e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.60634e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

GenotypeQuality
all individuals: 7766
bin: 6.25e1
variant carriers: 44

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 66

GenotypeQuality
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bin: 5.25e1
variant carriers: 13

GenotypeQuality
all individuals: 865
bin: 9.75e1
variant carriers: 683

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 39

Latino
type: Population
allele count: 6
allele frequency: 5.836575875486381e-3
allele num: 1028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 80
allele frequency: 9.259259259259259e-2
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 4.575960951799878e-3
allele num: 3278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 611
allele frequency: 4.186078377637709e-2
allele num: 14596
num of homozygotes: 3

South Asian
type: Population
allele count: 18
allele frequency: 2.281368821292776e-3
allele num: 7890
num of homozygotes: 1

Other
type: Population
allele count: 4
allele frequency: 1.769911504424779e-2
allele num: 226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.87964e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 1.838e0

QD
type: SiteQuality
SIO_000300: 1.14e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 10319
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.063829787234043e-3
allele num: 940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.53324889170361e-4
allele num: 15790
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 6.02881e5

GenotypeQuality
all individuals: 193
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 148
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.526935264825713e-4
allele num: 8836
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.644376233282175e-4
allele num: 18244
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.075e1

DP
type: SiteQuality
SIO_000300: 6.4436e5

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

FS
type: SiteQuality
SIO_000300: 1.292e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 357
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GenotypeQuality
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GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 2011
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.096250822188117e-4
allele num: 18244
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.720430107526882e-4
allele num: 1488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.292e0

DP
type: SiteQuality
SIO_000300: 6.4436e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31299
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 471
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.101321585903084e-4
allele num: 9080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.596053997923157e-4
allele num: 3852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.284e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 6.55021e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.538071065989848e-4
allele num: 3940
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.61514e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 344
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.416965803891933e-4
allele num: 21172
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.439e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1356
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.060445387062566e-3
allele num: 9430
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
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VQSLOD
type: SiteQuality
SIO_000300: -1.595e0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

FS
type: SiteQuality
SIO_000300: 8.87e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.781e1

QD
type: SiteQuality
SIO_000300: 1.029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.397e0

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7203
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GenotypeQuality
all individuals: 157
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.550418638514743e-5
allele num: 21976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
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BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.94e-2

DP
type: SiteQuality
SIO_000300: 6.44273e5

VQSLOD
type: SiteQuality
SIO_000300: -9.124e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

GenotypeQuality
all individuals: 905
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.078748651564186e-4
allele num: 9270
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.555e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.92e-2

QD
type: SiteQuality
SIO_000300: 1.65e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 6.26632e5

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1120
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 617
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 4.188306248952923e-4
allele num: 11938
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.661129568106312e-3
allele num: 2408
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.75310642895732e-4
allele num: 7404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.537205081669691e-4
allele num: 2204
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.2955e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.988e2

QD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 5.7253e2

MQ
type: SiteQuality
SIO_000300: 5.746e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.41e-2

GenotypeQuality
all individuals: 7371
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 357
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 5.7253e2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.746e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.41e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.988e2

DP
type: SiteQuality
SIO_000300: 6.2955e5

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

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 178
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 216
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12044
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 9.250693802035153e-4
allele num: 2162
num of homozygotes: 0

European (Finnish)
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: 6.21224e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 1.4905e1

QD
type: SiteQuality
SIO_000300: 1.117e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 1184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.785714285714286e-3
allele num: 560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.723e1

MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

VQSLOD
type: SiteQuality
SIO_000300: -1.13e2

FS
type: SiteQuality
SIO_000300: 3.57526e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.667e-1

DP
type: SiteQuality
SIO_000300: 5.96094e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 3.41e0

GenotypeQuality
all individuals: 5878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.667e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.13e2

DP
type: SiteQuality
SIO_000300: 5.96094e5

QD
type: SiteQuality
SIO_000300: 3.41e0

FS
type: SiteQuality
SIO_000300: 3.57526e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 324
bin: 6.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.54735721887194e-4
allele num: 5638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.484460694698354e-4
allele num: 5470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.631961259079903e-3
allele num: 826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.93553e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.418e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.717e1

VQSLOD
type: SiteQuality
SIO_000300: -1.094e3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.031e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

DP
type: SiteQuality
SIO_000300: 5.53718e5

GenotypeQuality
all individuals: 3458
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 928
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.375209380234506e-4
allele num: 1194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

QD
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 6.22249e5

VQSLOD
type: SiteQuality
SIO_000300: -8.921e-1

FS
type: SiteQuality
SIO_000300: 1.6821e1

MQ
type: SiteQuality
SIO_000300: 5.644e1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.370000000000001e-2

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 467
bin: 2.75e1
variant carriers: 60

GenotypeQuality
all individuals: 33
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 22

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 282
bin: 6.25e1
variant carriers: 10

African
type: Population
allele count: 12
allele frequency: 1.652892561983471e-2
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 174
allele frequency: 4.746317512274959e-2
allele num: 3666
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 3.125e-2
allele num: 1120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 2.941176470588235e-2
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 3.441295546558704e-2
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 2.966101694915254e-2
allele num: 236
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.0e-2
allele num: 50
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 1.80519e2

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.123e-1

DP
type: SiteQuality
SIO_000300: 6.51471e5

MQ
type: SiteQuality
SIO_000300: 5.705e1

QD
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

VQSLOD
type: SiteQuality
SIO_000300: -1.309e2

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.518891687657431e-4
allele num: 3970
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4214
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

FS
type: SiteQuality
SIO_000300: 2.4731e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 7.69291e5

GenotypeQuality
all individuals: 17694
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3230
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1535
bin: 3.75e1
variant carriers: 4

South Asian
type: Population
allele count: 2
allele frequency: 1.981767736821245e-4
allele num: 10092
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.527805864509606e-4
allele num: 3956
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.778129236330773e-4
allele num: 4426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.868068833652008e-3
allele num: 2092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 4.010427110487267e-4
allele num: 29922
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.569e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

VQSLOD
type: SiteQuality
SIO_000300: -9.813000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 9.671599999999999e1

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

QD
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 7.88672e5

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1294
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.002606777621817e-4
allele num: 29922
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2092
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.512562814070352e-3
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.981767736821245e-4
allele num: 10092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.263467632412856e-4
allele num: 4418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 7.88672e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.569e0

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

QD
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -9.813000000000001e0

FS
type: SiteQuality
SIO_000300: 9.671599999999999e1

MQ
type: SiteQuality
SIO_000300: 5.705e1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8938
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 622
bin: 3.25e1
variant carriers: 10

GenotypeQuality
all individuals: 16
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variant carriers: 2

GenotypeQuality
all individuals: 14
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 7.25e1
variant carriers: 2

South Asian
type: Population
allele count: 3
allele frequency: 4.201680672268907e-3
allele num: 714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 4.889975550122249e-3
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.639097744360902e-3
allele num: 532
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.175365344467641e-3
allele num: 958
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.374631268436578e-3
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 6.670296760141574e-3
allele num: 7346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.114e1

FS
type: SiteQuality
SIO_000300: 1.28101e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.324e0

QD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.967e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQ
type: SiteQuality
SIO_000300: 5.797e1

DP
type: SiteQuality
SIO_000300: 8.00342e5

GenotypeQuality
all individuals: 3250
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.016776817488561e-4
allele num: 19670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1930
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.705e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

DP
type: SiteQuality
SIO_000300: 7.98185e5

VQSLOD
type: SiteQuality
SIO_000300: -7.463e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.083e-1

QD
type: SiteQuality
SIO_000300: 6.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 1.31959e2

MQRankSum
type: SiteQuality
SIO_000300: -1.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1611
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2966
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 3
allele frequency: 1.223491027732463e-3
allele num: 2452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 4.4004400440044e-3
allele num: 1818
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.032258064516129e-4
allele num: 2480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 4.783315794508753e-4
allele num: 20906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.322340919647004e-4
allele num: 4306
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.209242618741977e-4
allele num: 3116
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.735e0

FS
type: SiteQuality
SIO_000300: 5.8573e1

VQSLOD
type: SiteQuality
SIO_000300: -1.278e1

MQ
type: SiteQuality
SIO_000300: 5.687e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.069e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 9.38027e5

QD
type: SiteQuality
SIO_000300: 3.37e0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.044059302568386e-4
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.692176475149259e-5
allele num: 51588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4798
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.28e0

MQ
type: SiteQuality
SIO_000300: 5.72e1

DP
type: SiteQuality
SIO_000300: 1.224684e6

MQRankSum
type: SiteQuality
SIO_000300: -2.186e0

FS
type: SiteQuality
SIO_000300: 2.3089e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.011e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 2964
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15231
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.399776035834267e-4
allele num: 7144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.25163161711385e-5
allele num: 13790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.753741180119407e-5
allele num: 51588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.250521050437682e-3
allele num: 4798
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.011e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.186e0

DP
type: SiteQuality
SIO_000300: 1.224684e6

QD
type: SiteQuality
SIO_000300: 6.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.72e1

FS
type: SiteQuality
SIO_000300: 2.3089e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 522
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.007870853746687e-4
allele num: 24902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.5868e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.673e-1

MQ
type: SiteQuality
SIO_000300: 5.753e1

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

QD
type: SiteQuality
SIO_000300: 4.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

DP
type: SiteQuality
SIO_000300: 1.450174e6

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9483
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.007870853746687e-4
allele num: 24902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.409638554216867e-4
allele num: 4150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.714710252600297e-4
allele num: 2692
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 7.326007326007326e-4
allele num: 2730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.753e1

DP
type: SiteQuality
SIO_000300: 1.450174e6

QD
type: SiteQuality
SIO_000300: 4.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.673e-1

FS
type: SiteQuality
SIO_000300: 3.5868e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 9281
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variant carriers: 1

GenotypeQuality
all individuals: 3094
bin: 2.75e1
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GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 904
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GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
all individuals: 9836
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.017756255044391e-4
allele num: 4956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.578382473641013e-4
allele num: 31678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.162555344718533e-4
allele num: 3162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.988023952095808e-4
allele num: 3340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
SIO_000300: -7.357e0

MQ
type: SiteQuality
SIO_000300: 5.703e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 4.4586e1

QD
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 1.475806e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

GenotypeQuality
all individuals: 140
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variant carriers: 1

GenotypeQuality
all individuals: 1973
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GenotypeQuality
all individuals: 1704
bin: 9.25e1
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GenotypeQuality
all individuals: 1080
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663893510815308e-5
allele num: 60100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.280618012812461e-5
allele num: 15922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.525e0

VQSLOD
type: SiteQuality
SIO_000300: -3.901e0

MQRankSum
type: SiteQuality
SIO_000300: -1.614e0

FS
type: SiteQuality
SIO_000300: 2.8437e1

QD
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.293e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.724e1

DP
type: SiteQuality
SIO_000300: 1.696318e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 1653
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variant carriers: 0

GenotypeQuality
all individuals: 1653
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variant carriers: 2

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 21195
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GenotypeQuality
all individuals: 1493
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 6.759801712483101e-4
allele num: 4438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.353424163132726e-4
allele num: 44332
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.053506282934738e-4
allele num: 4934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.237e0

QD
type: SiteQuality
SIO_000300: 3.32e0

FS
type: SiteQuality
SIO_000300: 2.5094e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.824603e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.18e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 5.671e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641820450515532e-5
allele num: 60908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.551831160769708e-4
allele num: 6444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.7491e1

MQRankSum
type: SiteQuality
SIO_000300: -2.254e0

QD
type: SiteQuality
SIO_000300: 3.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.609e0

VQSLOD
type: SiteQuality
SIO_000300: -3.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQ
type: SiteQuality
SIO_000300: 5.75e1

DP
type: SiteQuality
SIO_000300: 1.786899e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
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South Asian
type: Population
allele count: 1
allele frequency: 8.407600470825626e-5
allele num: 11894
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.788275e6

FS
type: SiteQuality
SIO_000300: 2.166e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.187e0

MQ
type: SiteQuality
SIO_000300: 5.553e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.547e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1373
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.016129032258065e-4
allele num: 4960
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.087372645878358e-4
allele num: 6478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.579489900329708e-5
allele num: 52774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.547e0

FS
type: SiteQuality
SIO_000300: 2.166e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 1.788275e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

MQ
type: SiteQuality
SIO_000300: 5.553e1

QD
type: SiteQuality
SIO_000300: 2.91e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.91131498470948e-4
allele num: 5232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14030
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.082654578936186e-5
allele num: 56476
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.698327037236913e-4
allele num: 7412
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.710061e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

FS
type: SiteQuality
SIO_000300: 1.5539e1

QD
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: -5.152e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.766e0

MQRankSum
type: SiteQuality
SIO_000300: -3.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.548e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.56e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.76132521974307e-5
allele num: 14790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.74251497005988e-4
allele num: 5344
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.594033722438392e-4
allele num: 7710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.03327133705311e-4
allele num: 58068
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.753e0

VQSLOD
type: SiteQuality
SIO_000300: -6.653e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

QD
type: SiteQuality
SIO_000300: 3.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.141e0

FS
type: SiteQuality
SIO_000300: 2.2711e1

DP
type: SiteQuality
SIO_000300: 1.706009e6

MQ
type: SiteQuality
SIO_000300: 5.717e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 525
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.824151769427216e-4
allele num: 5482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

MQ
type: SiteQuality
SIO_000300: 5.666e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.631e0

QD
type: SiteQuality
SIO_000300: 3.77e0

DP
type: SiteQuality
SIO_000300: 1.646718e6

VQSLOD
type: SiteQuality
SIO_000300: -4.783e0

FS
type: SiteQuality
SIO_000300: 2.1151e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61620
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.692047377326565e-4
allele num: 5910
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.529e0

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 9.516999999999999e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.588142e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.538e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
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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: 62044
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.641497045305318e-4
allele num: 6092
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8430
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African
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604157977477622e-5
allele num: 62338
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.27e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.581277672359266e-4
allele num: 6324
num of homozygotes: 0

Other
type: Population
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East Asian
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.617e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

QD
type: SiteQuality
SIO_000300: 3.06e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.182872013248167e-4
allele num: 8454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.555e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.681e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.582638e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.702e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9098
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
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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 count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.587704813920996e-5
allele num: 62984
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.474e0

VQSLOD
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MQ
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SIO_000300: 5.795e1

FS
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ClippingRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63110
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.585971e6

VQSLOD
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63194
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 1.083423618634886e-4
allele num: 9230
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.586734e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 9.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.159957024584466e-5
allele num: 63292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.793e1

FS
type: SiteQuality
SIO_000300: 1.569e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.588598e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576193178235924e-5
allele num: 63444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.241e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.604e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.678e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 1.590842e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.63e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.143072667840081e-5
allele num: 63632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64060
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Other
type: Population
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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: 3.107616768700084e-5
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East Asian
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African
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allele frequency: 0.0e0
allele num: 9778
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

South Asian
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Other
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African
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64502
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East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64554
num of homozygotes: 0

European (Finnish)
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Latino
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num of homozygotes: 0

African
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South Asian
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East Asian
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Other
type: Population
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allele num: 890
num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.724e1

FS
type: SiteQuality
SIO_000300: 9.143000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.455e0

VQSLOD
type: SiteQuality
SIO_000300: -2.824e0

QD
type: SiteQuality
SIO_000300: 1.006e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.605508e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
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GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.078817733990148e-5
allele num: 64960
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.527e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQ
type: SiteQuality
SIO_000300: 5.618e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 2.969e0

DP
type: SiteQuality
SIO_000300: 1.606498e6

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7345
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.491e0

MQ
type: SiteQuality
SIO_000300: 4.662e1

DP
type: SiteQuality
SIO_000300: 1.609936e6

FS
type: SiteQuality
SIO_000300: 1.084e0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.536e1

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.983209241045439e-4
allele num: 65274
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.876878332525448e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.259e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.71e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

DP
type: SiteQuality
SIO_000300: 1.613441e6

GenotypeQuality
all individuals: 277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65274
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.71e1

VQSLOD
type: SiteQuality
SIO_000300: -2.259e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

DP
type: SiteQuality
SIO_000300: 1.613441e6

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530971554548516e-5
allele num: 65318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.724e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

MQ
type: SiteQuality
SIO_000300: 4.984e1

FS
type: SiteQuality
SIO_000300: 2.276e0

DP
type: SiteQuality
SIO_000300: 1.610825e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 7341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.81e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 1.611572e6

QD
type: SiteQuality
SIO_000300: 9.67e0

FS
type: SiteQuality
SIO_000300: 2.356e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.458e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.341e-1