21-47665033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665033
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665033
    reference: chr 21
allele count: 346
allele frequency: 2.86035514698588e-3
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4100C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3241G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2723G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1319G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4726G>A
  hgvsp: ENSP00000291688.1:p.Val1576Ile
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4100C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4726G>A
  hgvsp: ENSP00000380820.1:p.Val1576Ile
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4100C>T
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 12661
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12221
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18239
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 9.75e1
  variant carriers: 345
hgvs: p.Val1576Ile
num of homozygotes: 2
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

21-47665038-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665038
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665038
    reference: chr 21
allele count: 11
allele frequency: 9.099030539655229e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4105T>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3236A>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4721A>T
  hgvsp: ENSP00000291688.1:p.Gln1574Leu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1314A>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4721A>T
  hgvsp: ENSP00000380820.1:p.Gln1574Leu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4105T>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4105T>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2718A>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1574Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

21-47665043-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665043
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665043
    reference: chr 21
allele count: 3
allele frequency: 2.482744922786633e-5
allele num: 120834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2713C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4716C>A
  hgvsp: ENST00000397708.1:c.4716C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1309C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3231C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4110G>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4716C>A
  hgvsp: ENST00000291688.1:c.4716C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4110G>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4110G>T
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1572Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

21-47665052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665052
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665052
    reference: chr 21
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2704C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4707C>T
  hgvsp: ENST00000291688.1:c.4707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4707C>T
  hgvsp: ENST00000397708.1:c.4707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4119G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4119G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3222C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1300C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4119G>A
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys1569Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

21-47665055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665055
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665055
    reference: chr 21
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4704C>T
  hgvsp: ENST00000291688.1:c.4704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4122G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4704C>T
  hgvsp: ENST00000397708.1:c.4704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2701C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1297C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4122G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4122G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3219C>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys1568Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-47665068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665068
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665068
    reference: chr 21
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4135G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4691C>T
  hgvsp: ENSP00000291688.1:p.Ser1564Phe
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4691C>T
  hgvsp: ENSP00000380820.1:p.Ser1564Phe
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3206C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2688C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4135G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1284C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4135G>A
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1564Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/21-47665069-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665069
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665069
    reference: chr 21
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4690T>G
  hgvsp: ENSP00000380820.1:p.Ser1564Ala
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1283T>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4690T>G
  hgvsp: ENSP00000291688.1:p.Ser1564Ala
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4136A>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2687T>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3205T>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4136A>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4136A>C
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1564Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

21-47665071-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665071
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665071
    reference: chr 21
allele count: 13
allele frequency: 1.083477797039605e-4
allele num: 119984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4138T>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1281A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4138T>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4688A>C
  hgvsp: ENSP00000380820.1:p.His1563Pro
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3203A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4688A>C
  hgvsp: ENSP00000291688.1:p.His1563Pro
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2685A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4138T>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17811
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32442
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His1563Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

21-47665074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665074
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665074
    reference: chr 21
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4141G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1278C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4141G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4685C>T
  hgvsp: ENSP00000380820.1:p.Pro1562Leu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4141G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4685C>T
  hgvsp: ENSP00000291688.1:p.Pro1562Leu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3200C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2682C>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1562Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

21-47665076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665076
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665076
    reference: chr 21
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1276C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4143G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4683C>T
  hgvsp: ENST00000291688.1:c.4683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3198C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4683C>T
  hgvsp: ENST00000397708.1:c.4683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4143G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4143G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2680C>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys1561Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

21-47665077-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665077
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665077
    reference: chr 21
allele count: 3
allele frequency: 2.496297159213833e-5
allele num: 120178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4144C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1275G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4682G>C
  hgvsp: ENSP00000291688.1:p.Cys1561Ser
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4144C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3197G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4682G>C
  hgvsp: ENSP00000380820.1:p.Cys1561Ser
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2679G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4144C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8903
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Cys1561Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-47665079-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665079
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665079
    reference: chr 21
allele count: 2
allele frequency: 1.664946222237022e-5
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3195C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4146G>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1273C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4680C>A
  hgvsp: ENSP00000291688.1:p.His1560Gln
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2677C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4680C>A
  hgvsp: ENSP00000380820.1:p.His1560Gln
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4146G>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4146G>T
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 17657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His1560Gln
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

21-47665079-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665079
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665078
    reference: chr 21
allele count: 2
allele frequency: 1.664946222237022e-5
allele num: 120124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4147delT
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4679delA
  hgvsp: ENSP00000380820.1:p.His1560ProfsTer102
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4679delA
  hgvsp: ENSP00000291688.1:p.His1560ProfsTer102
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2676delA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3194delA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4147delT
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1272delA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4147delT
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1560ProfsTer102
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: GT
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

21-47665080-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665080
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665080
    reference: chr 21
allele count: 21
allele frequency: 1.753653444676409e-4
allele num: 119750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4147T>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4679A>C
  hgvsp: ENSP00000380820.1:p.His1560Pro
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4147T>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4679A>C
  hgvsp: ENSP00000291688.1:p.His1560Pro
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1272A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2676A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3194A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4147T>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12240
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His1560Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

21-47665082-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665082
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665082
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 119866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4677C>G
  hgvsp: ENST00000291688.1:c.4677C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1270C>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4149G>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4149G>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2674C>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3192C>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4677C>G
  hgvsp: ENST00000397708.1:c.4677C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4149G>C
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1559Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

21-47665083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665083
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665083
    reference: chr 21
allele count: 177
allele frequency: 1.483729273894747e-3
allele num: 119294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4150G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4676C>T
  hgvsp: ENSP00000291688.1:p.Ser1559Phe
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4676C>T
  hgvsp: ENSP00000380820.1:p.Ser1559Phe
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3191C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2673C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1269C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4150G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4150G>A
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17551
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8785
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 8
hgvs: p.Ser1559Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/21-47665086-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665086
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665087
    reference: chr 21
allele count: 2
allele frequency: 1.74941394632798e-5
allele num: 114324
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4672dupG
  hgvsp: ENSP00000380820.1:p.Val1558GlyfsTer9
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4672dupG
  hgvsp: ENSP00000291688.1:p.Val1558GlyfsTer9
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3187dupG
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1265dupG
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4155dupC
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2669dupG
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4155dupC
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4155dupC
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1558GlyfsTer9
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/21-47665086-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665086
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665086
    reference: chr 21
allele count: 2362
allele frequency: 2.066057870613345e-2
allele num: 114324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4153A>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4673T>G
  hgvsp: ENSP00000291688.1:p.Val1558Gly
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3188T>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4153A>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1266T>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4153A>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4673T>G
  hgvsp: ENSP00000380820.1:p.Val1558Gly
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2670T>G
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 3.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 2.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 4.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 4.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 2.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 2.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 30008
  bin: 6.25e1
  variant carriers: 40
hgvs: p.Val1558Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

21-47665097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665097
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665097
    reference: chr 21
allele count: 2
allele frequency: 1.679148335963999e-5
allele num: 119108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2659G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4164C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4662G>C
  hgvsp: ENST00000397708.1:c.4662G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1255G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4164C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4662G>C
  hgvsp: ENST00000291688.1:c.4662G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3177G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4164C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1554Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-47665097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665097
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665097
    reference: chr 21
allele count: 1
allele frequency: 8.395741679819996e-6
allele num: 119108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4164C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4662G>A
  hgvsp: ENST00000397708.1:c.4662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4164C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3177G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1255G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4164C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2659G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4662G>A
  hgvsp: ENST00000291688.1:c.4662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val1554Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-47665114-GAGAAGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665114
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665107
    reference: chr 21
allele count: 2
allele frequency: 1.999720039194513e-5
allele num: 100014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-10_1241-4delTTCTTCT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-10_4648-4delTTCTTCT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-10_2645-4delTTCTTCT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-10_3163-4delTTCTTCT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-10_4648-4delTTCTTCT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
hgvs: c.4648-10_4648-4delTTCTTCT
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: GAGAAGAA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

21-47665116-GAAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665116
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665112
    reference: chr 21
allele count: 41952
allele frequency: 3.578117803592447e-1
allele num: 117246
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-9_4648-6delTCTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-9_1241-6delTCTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-9_3163-6delTCTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-9_4648-6delTCTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4189_423+4192delAGAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4189_209+4192delAGAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-9_2645-6delTCTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4189_236+4192delAGAA
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 1400
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 3721
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 2.25e1
  variant carriers: 1527
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 1632
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.75e1
  variant carriers: 4224
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 2034
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 4.25e1
  variant carriers: 4339
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.25e1
  variant carriers: 2778
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.25e1
  variant carriers: 921
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 622
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 2842
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.75e1
  variant carriers: 1797
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 3678
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 700
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.25e1
  variant carriers: 1268
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 6.75e1
  variant carriers: 194
hgvs: c.4648-9_4648-6delTCTT
num of homozygotes: 7597
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: GAAGA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-47665119-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665119
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665117
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 64486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4188_236+4189delAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4188_423+4189delAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-10_2645-9delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4188_209+4189delAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-10_3163-9delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-10_4648-9delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-10_1241-9delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-10_4648-9delTT
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: GAA
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

21-47665123-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665123
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665121
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 113998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-14_4648-13delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-14_3163-13delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-14_2645-13delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4191_236+4192delAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-14_4648-13delTT
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4191_423+4192delAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4191_209+4192delAA
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-14_1241-13delTT
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: GAA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

21-47665128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665128
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665128
    reference: chr 21
allele count: 2
allele frequency: 1.755556335802816e-5
allele num: 113924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-17C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4195G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4195G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-17C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-17C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-17C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4195G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-17C>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

21-47665130-CTTGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665130
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665126
    reference: chr 21
allele count: 1
allele frequency: 8.809951721464566e-6
allele num: 113508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4201_236+4204delGTTG
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-23_4648-20delCCAA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4201_209+4204delGTTG
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-23_4648-20delCCAA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-23_1241-20delCCAA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-23_3163-20delCCAA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-23_2645-20delCCAA
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4201_423+4204delGTTG
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7256
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: CTTGG
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

21-47665134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665134
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665134
    reference: chr 21
allele count: 3
allele frequency: 2.652238489284956e-5
allele num: 113112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-23C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4201G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4201G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-23C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4201G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-23C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-23C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-23C>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

21-47665145-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665145
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665145
    reference: chr 21
allele count: 1
allele frequency: 9.007710600273834e-6
allele num: 111016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-34G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4212C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4212C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-34G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-34G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4212C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-34G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-34G>C
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-47665147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665147
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665147
    reference: chr 21
allele count: 3
allele frequency: 2.726677815749291e-5
allele num: 110024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-36G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-36G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4214C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-36G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4214C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-36G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4214C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-36G>A
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

21-47665159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47665159
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47665159
    reference: chr 21
allele count: 1
allele frequency: 9.283327144448571e-6
allele num: 107720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2645-48T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.209+4226A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.423+4226A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+4226A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4648-48T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1241-48T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3163-48T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4648-48T>C
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

21-47666186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666186
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666186
    reference: chr 21
allele count: 1
allele frequency: 8.829398364795423e-6
allele num: 113258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1240+35T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4647+35T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3314A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3162+35T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4647+35T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3314A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2644+35T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5253A>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24643
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

21-47666189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666189
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666189
    reference: chr 21
allele count: 1
allele frequency: 8.807003329047259e-6
allele num: 113546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3311T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2644+32A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1240+32A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3162+32A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4647+32A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3311T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5256T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4647+32A>G
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

21-47666190-TGACA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666190
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666186
    reference: chr 21
allele count: 1
allele frequency: 8.791672527781685e-6
allele num: 113744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4647+27_4647+30delTGTC
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3306_424-3303delAGAC
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1240+27_1240+30delTGTC
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3306_210-3303delAGAC
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2644+27_2644+30delTGTC
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3162+27_3162+30delTGTC
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4647+27_4647+30delTGTC
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5261_236+5264delAGAC
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: TGACA
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-47666215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666215
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666215
    reference: chr 21
allele count: 1
allele frequency: 8.356452852893003e-6
allele num: 119668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3162+6G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2644+6G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5282C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4647+6G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1240+6G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4647+6G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3285C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3285C>T
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
hgvs: c.4647+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

21-47666226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666226
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666226
    reference: chr 21
allele count: 11
allele frequency: 9.116374666423563e-5
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4642A>G
  hgvsp: ENSP00000291688.1:p.Thr1548Ala
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3274T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2639A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3157A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3274T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4642A>G
  hgvsp: ENSP00000380820.1:p.Thr1548Ala
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1235A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5293T>C
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37438
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1548Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

21-47666233-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666233
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666233
    reference: chr 21
allele count: 15
allele frequency: 1.240592175998677e-4
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2632A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1228A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4635A>G
  hgvsp: ENST00000397708.1:c.4635A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4635A>G
  hgvsp: ENST00000291688.1:c.4635A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3150A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5300T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3267T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3267T>C
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1545Gln
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: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

21-47666239-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666239
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666239
    reference: chr 21
allele count: 41
allele frequency: 3.387757800105764e-4
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5306A>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3261A>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4629T>A
  hgvsp: ENSP00000380820.1:p.Asp1543Glu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3261A>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2626T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4629T>A
  hgvsp: ENSP00000291688.1:p.Asp1543Glu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1222T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3144T>A
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1543Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

21-47666244-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666244
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666244
    reference: chr 21
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3256T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2621A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4624A>G
  hgvsp: ENSP00000380820.1:p.Asn1542Asp
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5311T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3256T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3139A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1217A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4624A>G
  hgvsp: ENSP00000291688.1:p.Asn1542Asp
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1542Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-47666245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666245
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666245
    reference: chr 21
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2620T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3255A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4623T>C
  hgvsp: ENST00000397708.1:c.4623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3138T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1216T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4623T>C
  hgvsp: ENST00000291688.1:c.4623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3255A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5312A>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile1541Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

21-47666249-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666249
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666249
    reference: chr 21
allele count: 5
allele frequency: 4.127183279955096e-5
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3251G>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4619C>A
  hgvsp: ENSP00000291688.1:p.Thr1540Asn
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4619C>A
  hgvsp: ENSP00000380820.1:p.Thr1540Asn
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3134C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1212C>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3251G>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5316G>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2616C>A
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1540Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

21-47666251-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666251
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666251
    reference: chr 21
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3132T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2614T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4617T>A
  hgvsp: ENSP00000380820.1:p.Asp1539Glu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4617T>A
  hgvsp: ENSP00000291688.1:p.Asp1539Glu
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5318A>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3249A>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1210T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3249A>T
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41132
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp1539Glu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

21-47666253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666253
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666253
    reference: chr 21
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2612G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4615G>C
  hgvsp: ENSP00000291688.1:p.Asp1539His
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5320C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3247C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1208G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3130G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4615G>C
  hgvsp: ENSP00000380820.1:p.Asp1539His
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3247C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp1539His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

21-47666253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666253
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666253
    reference: chr 21
allele count: 3
allele frequency: 2.475615190374808e-5
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4615G>A
  hgvsp: ENSP00000380820.1:p.Asp1539Asn
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4615G>A
  hgvsp: ENSP00000291688.1:p.Asp1539Asn
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3247C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5320C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3130G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3247C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2612G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1208G>A
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1539Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

21-47666262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666262
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666262
    reference: chr 21
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4606G>A
  hgvsp: ENSP00000380820.1:p.Glu1536Lys
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2603G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3238C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4606G>A
  hgvsp: ENSP00000291688.1:p.Glu1536Lys
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3238C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1199G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5329C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3121G>A
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1536Lys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

21-47666263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666263
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666263
    reference: chr 21
allele count: 4
allele frequency: 3.299404457495422e-5
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3237G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3120C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4605C>T
  hgvsp: ENST00000397708.1:c.4605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4605C>T
  hgvsp: ENST00000291688.1:c.4605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5330G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3237G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1198C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2602C>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1535Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

21-47666270-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666270
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666270
    reference: chr 21
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3230G>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4598C>G
  hgvsp: ENSP00000291688.1:p.Thr1533Ser
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1191C>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5337G>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2595C>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4598C>G
  hgvsp: ENSP00000380820.1:p.Thr1533Ser
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3230G>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3113C>G
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1533Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

21-47666277-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666277
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666277
    reference: chr 21
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3106G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4591G>C
  hgvsp: ENSP00000291688.1:p.Asp1531His
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3223C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5344C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4591G>C
  hgvsp: ENSP00000380820.1:p.Asp1531His
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2588G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1184G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3223C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1531His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

21-47666288-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666288
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666288
    reference: chr 21
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3212T>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2577A>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5355T>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4580A>T
  hgvsp: ENSP00000380820.1:p.Lys1527Met
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4580A>T
  hgvsp: ENSP00000291688.1:p.Lys1527Met
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3212T>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1173A>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3095A>T
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13060
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1527Met
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-47666304-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666304
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666304
    reference: chr 21
allele count: 5
allele frequency: 4.125208323020312e-5
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2561G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1157G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3196C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3079G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4564G>C
  hgvsp: ENSP00000291688.1:p.Asp1522His
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4564G>C
  hgvsp: ENSP00000380820.1:p.Asp1522His
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5371C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3196C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp1522His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

21-47666318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666318
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666318
    reference: chr 21
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3182C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5385C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3182C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550G>A
  hgvsp: ENSP00000291688.1:p.Gly1517Asp
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550G>A
  hgvsp: ENSP00000380820.1:p.Gly1517Asp
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3065G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547G>A
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1517Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

21-47666327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666327
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666327
    reference: chr 21
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-9G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-9G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3056G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-9G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3173C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-9G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3173C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5394C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

21-47666331-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666331
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666331
    reference: chr 21
allele count: 11
allele frequency: 9.094216078574027e-5
allele num: 120956
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3169C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-13G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-13G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-13G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5398C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3052G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-13G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3169C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

21-47666331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666331
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666331
    reference: chr 21
allele count: 6
allele frequency: 4.960481497404015e-5
allele num: 120956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3052G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-13G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5398C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-13G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3169C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-13G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3169C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-13G>A
  variant of: http://identifiers.org/hgnc/6946
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
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: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

21-47666332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666332
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666332
    reference: chr 21
allele count: 14363
allele frequency: 1.188753889955638e-1
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-14T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3168A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3168A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5399A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3051T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-14T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-14T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-14T>C
  variant of: http://identifiers.org/hgnc/6946
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 1476
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.75e1
  variant carriers: 1302
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 689
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.25e1
  variant carriers: 1671
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 2.75e1
  variant carriers: 1054
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 28129
  bin: 2.25e1
  variant carriers: 546
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 9.75e1
  variant carriers: 1296
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 3.75e1
  variant carriers: 1758
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 942
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31713
  bin: 6.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4893
  bin: 6.75e1
  variant carriers: 22
num of homozygotes: 1388
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

21-47666336-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666336
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666336
    reference: chr 21
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-18T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5403A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3047T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3164A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3164A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-18T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-18T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-18T>C
  variant of: http://identifiers.org/hgnc/6946
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15610
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

21-47666342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666342
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666342
    reference: chr 21
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-24C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3041C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3158G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-24C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-24C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3158G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-24C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5409G>A
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

21-47666351-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666351
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666351
    reference: chr 21
allele count: 3
allele frequency: 2.498292833230626e-5
allele num: 120082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5418A>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3032T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-33T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-33T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-33T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3149A>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-33T>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3149A>T
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

21-47666358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666358
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666358
    reference: chr 21
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3025A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3142T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3142T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5425T>C
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

21-47666377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666377
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666377
    reference: chr 21
allele count: 24
allele frequency: 2.017417033724488e-4
allele num: 118964
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-59T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-59T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-59T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-59T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3123A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3123A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3006T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5444A>G
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22444
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

21-47666380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666380
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666380
    reference: chr 21
allele count: 1
allele frequency: 8.419351036422112e-6
allele num: 118774
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-62A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3003A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-62A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3120T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-62A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3120T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-62A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5447T>C
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

21-47666381-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666381
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666381
    reference: chr 21
allele count: 4
allele frequency: 3.372624407682838e-5
allele num: 118602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-63G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-63G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-63G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3119C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-63G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3119C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5448C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.3002G>C
  variant of: http://identifiers.org/hgnc/6946
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22010
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

21-47666394-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666394
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666394
    reference: chr 21
allele count: 1
allele frequency: 8.461955050094773e-6
allele num: 118176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2989G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5461C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-76G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-76G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3106C>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-76G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-76G>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3106C>G
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

21-47666400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666400
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666400
    reference: chr 21
allele count: 1
allele frequency: 8.471848048933394e-6
allele num: 118038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-3100C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4550-82G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2983G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2547-82G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4550-82G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-3100C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5467C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1143-82G>A
  variant of: http://identifiers.org/hgnc/6946
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

21-47666502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666502
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666502
    reference: chr 21
allele count: 4
allele frequency: 3.383808476440234e-5
allele num: 118210
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-2998T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1142+40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2881A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4549+40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4549+40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5569T>C
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2546+40A>G
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-2998T>C
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

21-47666506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666506
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666506
    reference: chr 21
allele count: 1
allele frequency: 8.461095881138525e-6
allele num: 118188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2546+36G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1142+36G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-2994C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-2994C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2877G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5573C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4549+36G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4549+36G>A
  variant of: http://identifiers.org/hgnc/6946
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

21-47666508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666508
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666508
    reference: chr 21
allele count: 1
allele frequency: 8.448514751106756e-6
allele num: 118364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4549+34T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-2992A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1142+34T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-2992A>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4549+34T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2546+34T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2875T>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5575A>G
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

21-47666512-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666512
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666512
    reference: chr 21
allele count: 4
allele frequency: 3.376781252110489e-5
allele num: 118456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4549+30A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2871A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1142+30A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4549+30A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2546+30A>C
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-2988T>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-2988T>G
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5579T>G
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-47666523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666523
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666523
    reference: chr 21
allele count: 2
allele frequency: 1.682114080976972e-5
allele num: 118898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4549+19G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1142+19G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-2977C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5590C>T
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2546+19G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2860G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4549+19G>A
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-2977C>T
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

21-47666524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666524
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666524
    reference: chr 21
allele count: 3
allele frequency: 2.518891687657431e-5
allele num: 119100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4549+18C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1142+18C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000414659.1:n.424-2976G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000590829.1:n.236+5591G>A
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4549+18C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2859C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2546+18C>T
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  hgvsc: ENST00000455567.1:n.210-2976G>A
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

21-47666526-G-GACTTCCTTCACAAACCATCTTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666526
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666549
    reference: chr 21
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: GACTTCCTTCACAAACCATCTTCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

21-47666544-TCTTCTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47666544
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47666538
    reference: chr 21
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000467026
  gene symbol: MCM3AP
  hgvsc: ENST00000467026.1:n.1134_1139delTAGAAG
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000291688
  ensembl transcript: ENST00000291688
  gene symbol: MCM3AP
  hgvsc: ENST00000291688.1:c.4541_4546delTAGAAG
  hgvsp: ENSP00000291688.1:p.Val1514_Glu1515del
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000496607
  gene symbol: MCM3AP
  hgvsc: ENST00000496607.1:n.2538_2543delTAGAAG
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000414659
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000455567
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160294
  ensembl protein: ENSP00000380820
  ensembl transcript: ENST00000397708
  gene symbol: MCM3AP
  hgvsc: ENST00000397708.1:c.4541_4546delTAGAAG
  hgvsp: ENSP00000380820.1:p.Val1514_Glu1515del
  variant of: http://identifiers.org/hgnc/6946
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215424
  ensembl transcript: ENST00000590829
  gene symbol: MCM3AP-AS1
  variant of: http://identifiers.org/hgnc/16417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160294
  ensembl transcript: ENST00000486937
  gene symbol: MCM3AP
  hgvsc: ENST00000486937.1:n.2833_2838delTAGAAG
  variant of: http://identifiers.org/hgnc/6946
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1514_Glu1515del
num of homozygotes: 0
reference allele: TCTTCTA

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 12
allele frequency: 1.037165082108902e-3
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011413256241154e-5
allele num: 66414
num of homozygotes: 0

African
type: Population
allele count: 331
allele frequency: 3.214216352689843e-2
allele num: 10298
num of homozygotes: 2

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

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

QD
type: SiteQuality
SIO_000300: 1.451e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
SIO_000300: 1.923719e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34940
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 9.75e1
variant carriers: 11

East Asian
type: Population
allele count: 11
allele frequency: 1.271676300578035e-3
allele num: 8650
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.29e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

DP
type: SiteQuality
SIO_000300: 1.91139e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34877
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9146
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523113107981787e-5
allele num: 66326
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

MQ
type: SiteQuality
SIO_000300: 5.872e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.794e0

FS
type: SiteQuality
SIO_000300: 2.7e0

DP
type: SiteQuality
SIO_000300: 1.909854e6

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

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 9.25e1
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: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.906726e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.476e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.905021e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.685e1

VQSLOD
type: SiteQuality
SIO_000300: -1.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.12e0

QD
type: SiteQuality
SIO_000300: 1.174e1

GenotypeQuality
all individuals: 181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
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: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 5.76e0

FS
type: SiteQuality
SIO_000300: 7.317e0

MQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.198e0

DP
type: SiteQuality
SIO_000300: 1.898716e6

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3290
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.69e0

MQ
type: SiteQuality
SIO_000300: 5.564e1

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.898102e6

GenotypeQuality
all individuals: 3245
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.071645415907711e-4
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.963535473642489e-4
allele num: 10092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.594167679222357e-5
allele num: 65840
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-1

QD
type: SiteQuality
SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

FS
type: SiteQuality
SIO_000300: 5.9569e1

MQ
type: SiteQuality
SIO_000300: 5.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.901789e6

VQSLOD
type: SiteQuality
SIO_000300: -1.783e1

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

GenotypeQuality
all individuals: 276
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8955
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513637877274241e-5
allele num: 66066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

DP
type: SiteQuality
SIO_000300: 1.900376e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.67e1

FS
type: SiteQuality
SIO_000300: 2.933e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.019e0

QD
type: SiteQuality
SIO_000300: 2.611e1

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.314e0

VQSLOD
type: SiteQuality
SIO_000300: -1.473e0

QD
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.537e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.898614e6

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

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 334
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.83671060397403e-5
allele num: 10166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515978412467406e-5
allele num: 65964
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.739000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.722e1

DP
type: SiteQuality
SIO_000300: 1.898855e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.425e0

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 8.2e-1

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.856100926473487e-5
allele num: 10146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 1.89788e6

VQSLOD
type: SiteQuality
SIO_000300: -1.306e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 5.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.545e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

FS
type: SiteQuality
SIO_000300: 2.1729e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.01e-1

GenotypeQuality
all individuals: 3667
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32503
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variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
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GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.856100926473487e-5
allele num: 10146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 2.1729e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.306e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.545e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 5.69e0

DP
type: SiteQuality
SIO_000300: 1.89788e6

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3623
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8827
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 284
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3950
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 32109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 7
allele frequency: 6.965174129353234e-4
allele num: 10050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.673767498478393e-4
allele num: 65720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.034901365705615e-4
allele num: 6590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.552e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

DP
type: SiteQuality
SIO_000300: 1.898741e6

QD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.746e1

FS
type: SiteQuality
SIO_000300: 5.5992e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.403e0

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

GenotypeQuality
all individuals: 1688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 2504
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variant carriers: 0

GenotypeQuality
all individuals: 365
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GenotypeQuality
all individuals: 8901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.043e1

VQSLOD
type: SiteQuality
SIO_000300: -1.079e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.898296e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.591e1

FS
type: SiteQuality
SIO_000300: 6.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1122
bin: 8.75e1
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GenotypeQuality
all individuals: 351
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GenotypeQuality
all individuals: 3200
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1685
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 281
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variant carriers: 3

GenotypeQuality
all individuals: 2491
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4040
bin: 9.75e1
variant carriers: 129

East Asian
type: Population
allele count: 6
allele frequency: 6.954102920723226e-4
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.196604884808592e-4
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.212389380530973e-3
allele num: 9944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 105
allele frequency: 1.604817509323225e-3
allele num: 65428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 35
allele frequency: 5.314303067112056e-3
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.524e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 9.7813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.900636e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.399e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

GenotypeQuality
all individuals: 2540
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 4722
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1056
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GenotypeQuality
all individuals: 1780
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GenotypeQuality
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GenotypeQuality
all individuals: 30008
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GenotypeQuality
all individuals: 289
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variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 7.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.111358079573238e-4
allele num: 8998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602410024677114e-5
allele num: 62406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.50055e2

MQ
type: SiteQuality
SIO_000300: 5.648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.223e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.351e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.993913e6

VQSLOD
type: SiteQuality
SIO_000300: -5.849e1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 2.44e0

GenotypeQuality
all individuals: 8247
bin: 6.75e1
variant carriers: 50

GenotypeQuality
all individuals: 2930
bin: 7.25e1
variant carriers: 43

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 25

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 46

GenotypeQuality
all individuals: 297
bin: 5.25e1
variant carriers: 42

GenotypeQuality
all individuals: 2272
bin: 8.25e1
variant carriers: 37

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 37

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 27

GenotypeQuality
all individuals: 3353
bin: 7.75e1
variant carriers: 48

GenotypeQuality
all individuals: 1056
bin: 8.75e1
variant carriers: 61

GenotypeQuality
all individuals: 4722
bin: 9.75e1
variant carriers: 1757

GenotypeQuality
all individuals: 1210
bin: 9.25e1
variant carriers: 39

Latino
type: Population
allele count: 45
allele frequency: 3.960570322126386e-3
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.41839762611276e-4
allele num: 16176
num of homozygotes: 0

African
type: Population
allele count: 323
allele frequency: 3.58968659702156e-2
allele num: 8998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 431
allele frequency: 7.140490390987408e-2
allele num: 6036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1440
allele frequency: 2.307470435535045e-2
allele num: 62406
num of homozygotes: 0

East Asian
type: Population
allele count: 75
allele frequency: 8.819379115710254e-3
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 36
allele frequency: 4.275534441805225e-2
allele num: 842
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

FS
type: SiteQuality
SIO_000300: 2.50055e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.351e0

QD
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: -5.849e1

DP
type: SiteQuality
SIO_000300: 1.993913e6

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4024
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.052037234854265e-5
allele num: 65530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

DP
type: SiteQuality
SIO_000300: 1.986393e6

FS
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.790000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.485e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.028e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 644
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1061
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4024
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526018617427133e-5
allele num: 65530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.485e1

VQSLOD
type: SiteQuality
SIO_000300: -8.790000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.986393e6

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

FS
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 2209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5953
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variant carriers: 0

GenotypeQuality
all individuals: 3474
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variant carriers: 0

GenotypeQuality
all individuals: 4000
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variant carriers: 2

GenotypeQuality
all individuals: 19091
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GenotypeQuality
all individuals: 2305
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variant carriers: 0

GenotypeQuality
all individuals: 1659
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variant carriers: 0

GenotypeQuality
all individuals: 1299
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variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.75e1
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GenotypeQuality
all individuals: 1024
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variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12066
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.179123992155154e-4
allele num: 9178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

DP
type: SiteQuality
SIO_000300: 2.122939e6

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

FS
type: SiteQuality
SIO_000300: 3.743e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

MQ
type: SiteQuality
SIO_000300: 5.55e1

GenotypeQuality
all individuals: 1267
bin: 7.25e1
variant carriers: 156

GenotypeQuality
all individuals: 1061
bin: 8.25e1
variant carriers: 169

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 42

GenotypeQuality
all individuals: 33663
bin: 9.75e1
variant carriers: 32345

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 147

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 174

GenotypeQuality
all individuals: 1472
bin: 7.75e1
variant carriers: 171

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 83

GenotypeQuality
all individuals: 243
bin: 3.75e1
variant carriers: 135

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 177

GenotypeQuality
all individuals: 13969
bin: 6.25e1
variant carriers: 173

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 291

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 191

European (Finnish)
type: Population
allele count: 2068
allele frequency: 3.142857142857143e-1
allele num: 6580
num of homozygotes: 319

European (Non-Finnish)
type: Population
allele count: 22933
allele frequency: 3.536750871348817e-1
allele num: 64842
num of homozygotes: 4011

African
type: Population
allele count: 2561
allele frequency: 2.570768921903232e-1
allele num: 9962
num of homozygotes: 303

South Asian
type: Population
allele count: 5665
allele frequency: 3.771135667687392e-1
allele num: 15022
num of homozygotes: 1019

Other
type: Population
allele count: 290
allele frequency: 3.325688073394495e-1
allele num: 872
num of homozygotes: 46

East Asian
type: Population
allele count: 2525
allele frequency: 2.955982205572465e-1
allele num: 8542
num of homozygotes: 364

Latino
type: Population
allele count: 5910
allele frequency: 5.172413793103449e-1
allele num: 11426
num of homozygotes: 1535

MQRankSum
type: SiteQuality
SIO_000300: -1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

FS
type: SiteQuality
SIO_000300: 1.632e0

QD
type: SiteQuality
SIO_000300: 1.717e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQ
type: SiteQuality
SIO_000300: 5.567e1

DP
type: SiteQuality
SIO_000300: 2.302214e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 1415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 2520
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variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 420
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variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 1522
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variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

QD
type: SiteQuality
SIO_000300: 5.0e0

FS
type: SiteQuality
SIO_000300: 1.632e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.534e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.677e0

MQ
type: SiteQuality
SIO_000300: 5.382e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 1.201218e6

GenotypeQuality
all individuals: 847
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5431
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variant carriers: 0

GenotypeQuality
all individuals: 7395
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variant carriers: 0

GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 2133
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GenotypeQuality
all individuals: 151
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GenotypeQuality
all individuals: 31250
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GenotypeQuality
all individuals: 1110
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GenotypeQuality
all individuals: 2465
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GenotypeQuality
all individuals: 210
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GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 5.315e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.73e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.551e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.054e0

DP
type: SiteQuality
SIO_000300: 1.708311e6

GenotypeQuality
all individuals: 156
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5958
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variant carriers: 0

GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 172
bin: 5.75e1
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GenotypeQuality
all individuals: 838
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variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
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GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.141690229343387e-5
allele num: 63660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.676256e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.353e1

VQSLOD
type: SiteQuality
SIO_000300: -1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 3067
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 408
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GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 814
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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: 2423
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GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574059499449079e-5
allele num: 63530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.666802e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.325e0

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

MQ
type: SiteQuality
SIO_000300: 4.979e1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
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GenotypeQuality
all individuals: 7161
bin: 6.75e1
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GenotypeQuality
all individuals: 3063
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 487
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GenotypeQuality
all individuals: 2388
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GenotypeQuality
all individuals: 2104
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GenotypeQuality
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 962
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variant carriers: 0

GenotypeQuality
all individuals: 833
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variant carriers: 0

GenotypeQuality
all individuals: 3089
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.628351147713334e-4
allele num: 11414
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12844
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.036e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.437e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 4.981e1

MQRankSum
type: SiteQuality
SIO_000300: -3.41e0

FS
type: SiteQuality
SIO_000300: 9.399999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.298e0

DP
type: SiteQuality
SIO_000300: 1.651818e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596729897170594e-5
allele num: 62628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

MQ
type: SiteQuality
SIO_000300: 4.843e1

FS
type: SiteQuality
SIO_000300: 6.435e0

MQRankSum
type: SiteQuality
SIO_000300: -2.648e0

QD
type: SiteQuality
SIO_000300: 1.329e1

VQSLOD
type: SiteQuality
SIO_000300: -3.615e0

DP
type: SiteQuality
SIO_000300: 1.58157e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.742e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 650
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variant carriers: 0

GenotypeQuality
all individuals: 6194
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.590234561991383e-4
allele num: 8356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62284
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.547098e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.66e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.615e0

QD
type: SiteQuality
SIO_000300: 2.81e0

GenotypeQuality
all individuals: 1924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
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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: 1978
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 808
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variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627551186484815e-5
allele num: 61442
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.061e0

QD
type: SiteQuality
SIO_000300: 1.679e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.471771e6

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

GenotypeQuality
all individuals: 4385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 102
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2133
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variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.44080896560608e-5
allele num: 15526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.385678e6

QD
type: SiteQuality
SIO_000300: 8.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.667e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
all individuals: 1991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 1877
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variant carriers: 0

GenotypeQuality
all individuals: 778
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5019
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3908
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GenotypeQuality
all individuals: 4485
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.009489198465576e-4
allele num: 9906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.413616e6

MQ
type: SiteQuality
SIO_000300: 5.652e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 9.053000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.455e0

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 1085
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1900
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.00664384940608e-4
allele num: 9934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.386e1

DP
type: SiteQuality
SIO_000300: 1.423994e6

FS
type: SiteQuality
SIO_000300: 7.243e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522116350573838e-5
allele num: 65698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.574077e6

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

FS
type: SiteQuality
SIO_000300: 5.573e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 719
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GenotypeQuality
all individuals: 102
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variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.063624057242313e-3
allele num: 10342
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

FS
type: SiteQuality
SIO_000300: 6.86e0

DP
type: SiteQuality
SIO_000300: 1.589731e6

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 2619
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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: 133
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4534
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variant carriers: 15

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.805706031058144e-4
allele num: 66456
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.544077552256892e-4
allele num: 6602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 1.32e0

DP
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SIO_000300: 1.594797e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

East Asian
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allele count: 37
allele frequency: 4.280425728829246e-3
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.854307188282906e-4
allele num: 10378
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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QD
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.265e0

FS
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SIO_000300: 2.766e0

BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
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SIO_000300: 1.598068e6

QD
type: SiteQuality
SIO_000300: 1.533e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.598369e6

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 3.227e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

FS
type: SiteQuality
SIO_000300: 4.236e0

DP
type: SiteQuality
SIO_000300: 1.599465e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.217e1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.812e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.285e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
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South Asian
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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Latino
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East Asian
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Other
type: Population
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.501800720288115e-5
allele num: 66640
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European (Finnish)
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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DP
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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African
type: Population
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allele frequency: 9.624639076034648e-5
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Other
type: Population
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allele num: 906
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
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East Asian
type: Population
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allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.602037e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

FS
type: SiteQuality
SIO_000300: 2.459e0

QD
type: SiteQuality
SIO_000300: 1.258e1

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

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.602068e6

VQSLOD
type: SiteQuality
SIO_000300: -8.469e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

QD
type: SiteQuality
SIO_000300: 1.061e1

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

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

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4526
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6464
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.126e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

FS
type: SiteQuality
SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 1.602131e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

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

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6457
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 856
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40969
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.602335e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
all individuals: 2379
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
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variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.505478999669759e-5
allele num: 66618
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 5.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.601252e6

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40049
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variant carriers: 0

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 854
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

FS
type: SiteQuality
SIO_000300: 2.645e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.598509e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 725
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2635
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variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.594505e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.825e0

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

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

GenotypeQuality
all individuals: 856
bin: 9.25e1
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GenotypeQuality
all individuals: 2640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6353
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.25e1
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GenotypeQuality
all individuals: 2372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.633911368015414e-4
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

DP
type: SiteQuality
SIO_000300: 1.592272e6

QD
type: SiteQuality
SIO_000300: 1.486e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
all individuals: 476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 416
bin: 3.75e1
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GenotypeQuality
all individuals: 4542
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.75e1
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GenotypeQuality
all individuals: 2372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6353
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 6
allele frequency: 5.780346820809249e-4
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.592272e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.486e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 21

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 305
bin: 4.75e1
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GenotypeQuality
all individuals: 1729
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 596
bin: 9.25e1
variant carriers: 57

GenotypeQuality
all individuals: 356
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 494
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variant carriers: 36

GenotypeQuality
all individuals: 1109
bin: 8.25e1
variant carriers: 66

GenotypeQuality
all individuals: 15290
bin: 9.75e1
variant carriers: 12646

GenotypeQuality
all individuals: 458
bin: 3.25e1
variant carriers: 7

Latino
type: Population
allele count: 880
allele frequency: 7.640215315158881e-2
allele num: 11518
num of homozygotes: 38

African
type: Population
allele count: 4044
allele frequency: 3.896704567354018e-1
allele num: 10378
num of homozygotes: 804

South Asian
type: Population
allele count: 544
allele frequency: 3.303777480869671e-2
allele num: 16466
num of homozygotes: 12

European (Non-Finnish)
type: Population
allele count: 8251
allele frequency: 1.243369499698614e-1
allele num: 66360
num of homozygotes: 505

Other
type: Population
allele count: 108
allele frequency: 1.197339246119734e-1
allele num: 902
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 534
allele frequency: 8.113035551504102e-2
allele num: 6582
num of homozygotes: 24

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

DP
type: SiteQuality
SIO_000300: 1.89214e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.24e-2

QD
type: SiteQuality
SIO_000300: 1.742e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e0

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

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.721e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

DP
type: SiteQuality
SIO_000300: 1.607602e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 605
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4311
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 1.595947e6

VQSLOD
type: SiteQuality
SIO_000300: -5.739e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.926e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

QD
type: SiteQuality
SIO_000300: 8.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.874e0

GenotypeQuality
all individuals: 1569
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.549176599035575e-5
allele num: 65946
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.732e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

DP
type: SiteQuality
SIO_000300: 1.572872e6

GenotypeQuality
all individuals: 912
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 746
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

DP
type: SiteQuality
SIO_000300: 1.553193e6

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.584e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

FS
type: SiteQuality
SIO_000300: 1.356e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 1906
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4333
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1870
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25801
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 24
allele frequency: 2.114164904862579e-3
allele num: 11352
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65266
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.521103e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.448e1

GenotypeQuality
all individuals: 1924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.695e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.854e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.51583e6

FS
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.55e1

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1917
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65054
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.442897276169537e-4
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

DP
type: SiteQuality
SIO_000300: 1.514559e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1840
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.016e1

VQSLOD
type: SiteQuality
SIO_000300: -1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 8.994e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.519238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

GenotypeQuality
all individuals: 1967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2582
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4328
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 846
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54320987654321e-5
allele num: 64800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

VQSLOD
type: SiteQuality
SIO_000300: -1.612e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

FS
type: SiteQuality
SIO_000300: 1.569e0

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 1.534701e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32267
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3033
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.108175793299331e-5
allele num: 65486
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.465e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e0

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 2.869163e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 138
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3201
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
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: 15178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527230520174715e-5
allele num: 65478
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.872593e6

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: -5.558e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 8.343e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.71e0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32267
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52597204419215e-5
allele num: 65532
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.499e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

FS
type: SiteQuality
SIO_000300: 4.396e0

DP
type: SiteQuality
SIO_000300: 2.874929e6

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32269
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.102956882609625e-5
allele num: 65542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.11e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.511e0

DP
type: SiteQuality
SIO_000300: 2.87967e6

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

FS
type: SiteQuality
SIO_000300: 4.599e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 3399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 8668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32268
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.429214350006429e-5
allele num: 15554
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65682
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 2.89802e6

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

FS
type: SiteQuality
SIO_000300: 1.1277e1

MQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeQuality
all individuals: 3212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32265
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1902
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.564264849074975e-5
allele num: 65728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15684
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

DP
type: SiteQuality
SIO_000300: 2.900754e6

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65770
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 5.223e1

FS
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 2.903541e6

QD
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -7.864e-1