3-69106444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106444
    reference: chr 3
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*370C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*401C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.927C>T
  hgvsp: ENST00000361055.4:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.396C>T
  hgvsp: ENST00000540295.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.804C>T
  hgvsp: ENST00000415609.2:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.885C>T
  hgvsp: ENST00000349511.4:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile309Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-69106446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106446
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106446
    reference: chr 3
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.883A>G
  hgvsp: ENSP00000340041.4:p.Ile295Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*368A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.802A>G
  hgvsp: ENSP00000400294.2:p.Ile268Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.394A>G
  hgvsp: ENSP00000440085.1:p.Ile132Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*399A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.925A>G
  hgvsp: ENSP00000354340.4:p.Ile309Val
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile309Val
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: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-69106452-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106452
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106452
    reference: chr 3
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*362A>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.796A>C
  hgvsp: ENSP00000400294.2:p.Lys266Gln
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.388A>C
  hgvsp: ENSP00000440085.1:p.Lys130Gln
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*393A>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.877A>C
  hgvsp: ENSP00000340041.4:p.Lys293Gln
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.919A>C
  hgvsp: ENSP00000354340.4:p.Lys307Gln
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys307Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-69106454-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106454
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106454
    reference: chr 3
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*360T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.794T>C
  hgvsp: ENSP00000400294.2:p.Val265Ala
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*391T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.386T>C
  hgvsp: ENSP00000440085.1:p.Val129Ala
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.917T>C
  hgvsp: ENSP00000354340.4:p.Val306Ala
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.875T>C
  hgvsp: ENSP00000340041.4:p.Val292Ala
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  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: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val306Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-69106459-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106459
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106459
    reference: chr 3
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.912G>T
  hgvsp: ENST00000361055.4:c.912G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*355G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.789G>T
  hgvsp: ENST00000415609.2:c.789G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.381G>T
  hgvsp: ENST00000540295.1:c.381G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*386G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.870G>T
  hgvsp: ENST00000349511.4:c.870G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: c.912G>T
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

3-69106463-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106463
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106464
    reference: chr 3
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-4dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-4dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-4dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-4dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-4dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-4dupT
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: c.911-4dupT
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-69106465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106465
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106465
    reference: chr 3
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-5T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-5T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-5T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-5T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-5T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-5T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: c.911-5T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-69106468-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106468
    reference: chr 3
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-8T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-8T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-8T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-8T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-8T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-8T>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 6.25e1
  variant carriers: 0
hgvs: c.911-8T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-69106468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106468
    reference: chr 3
allele count: 2
allele frequency: 1.65128222064433e-5
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-8T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-8T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-8T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-8T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-8T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-8T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 9.25e1
  variant carriers: 0
hgvs: c.911-8T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-69106469-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106469
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106469
    reference: chr 3
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-9T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-9T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-9T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-9T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-9T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-9T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-69106471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106471
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106471
    reference: chr 3
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-11T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-11T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-11T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-11T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-11T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-11T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
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genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
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genotype quality: GenotypeQuality
  all individuals: 4702
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

3-69106484-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106484
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106484
    reference: chr 3
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-24A>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-24A>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-24A>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-24A>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-24A>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-24A>T
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-69106488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106488
    reference: chr 3
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-28C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-28C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-28C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-28C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-28C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-28C>T
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 624
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genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 5801
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genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 80
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

3-69106490-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106490
    reference: chr 3
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-30G>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-30G>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-30G>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-30G>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-30G>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-30G>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5669
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5083
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genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43803
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genotype quality: GenotypeQuality
  all individuals: 1043
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genotype quality: GenotypeQuality
  all individuals: 100
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2018
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 173
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 135
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genotype quality: GenotypeQuality
  all individuals: 542
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

3-69106498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106498
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106498
    reference: chr 3
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-38A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-38A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-38A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-38A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-38A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-38A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2670
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genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 123
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 100
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genotype quality: GenotypeQuality
  all individuals: 174
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-69106510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106510
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106510
    reference: chr 3
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-50C>T
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43797
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

3-69106510-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69106510
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69106510
    reference: chr 3
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*385-50C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*354-50C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.788-50C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.911-50C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.380-50C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.869-50C>A
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43797
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-69110929-CCCAACATCATA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110918
    reference: chr 3
allele count: 10
allele frequency: 8.652165637058956e-5
allele num: 115578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  variant of: http://identifiers.org/hgnc/12470
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32960
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: CCCAACATCATA
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

3-69110935-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110935
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110935
    reference: chr 3
allele count: 4
allele frequency: 3.449881841546927e-5
allele num: 115946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.868+30T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.910+30T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.492T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*353+30T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*384+30T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.379+30T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.787+30T>A
  variant of: http://identifiers.org/hgnc/12470
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-69110946-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110946
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110946
    reference: chr 3
allele count: 1
allele frequency: 8.583690987124463e-6
allele num: 116500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.379+19A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.787+19A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*384+19A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.910+19A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.868+19A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.481A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*353+19A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

3-69110960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110960
    reference: chr 3
allele count: 2
allele frequency: 1.699119855914636e-5
allele num: 117708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.787+5G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.868+5G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.910+5G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.379+5G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*384+5G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.467G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*353+5G>A
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
hgvs: c.910+5G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-69110961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110961
    reference: chr 3
allele count: 37
allele frequency: 3.138944975142949e-4
allele num: 117874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*353+4A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.910+4A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*384+4A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.787+4A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.466A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.379+4A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.868+4A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32986
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 9.25e1
  variant carriers: 0
hgvs: c.910+4A>G
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

3-69110966-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110966
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110966
    reference: chr 3
allele count: 2
allele frequency: 1.687023415885013e-5
allele num: 118552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.867A>G
  hgvsp: ENST00000349511.4:c.867A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*383A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.909A>G
  hgvsp: ENST00000361055.4:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.378A>G
  hgvsp: ENST00000540295.1:c.378A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.786A>G
  hgvsp: ENST00000415609.2:c.786A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*352A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.461A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32971
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: c.909A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-69110970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110970
    reference: chr 3
allele count: 1
allele frequency: 8.40152571707022e-6
allele num: 119026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*348C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*379C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.863C>G
  hgvsp: ENSP00000340041.4:p.Thr288Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.782C>G
  hgvsp: ENSP00000400294.2:p.Thr261Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.374C>G
  hgvsp: ENSP00000440085.1:p.Thr125Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.905C>G
  hgvsp: ENSP00000354340.4:p.Thr302Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.457C>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr302Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-69110977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110977
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110977
    reference: chr 3
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*341A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*372A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.367A>G
  hgvsp: ENSP00000440085.1:p.Arg123Gly
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.775A>G
  hgvsp: ENSP00000400294.2:p.Arg259Gly
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.450A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.856A>G
  hgvsp: ENSP00000340041.4:p.Arg286Gly
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.898A>G
  hgvsp: ENSP00000354340.4:p.Arg300Gly
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg300Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

3-69110979-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110979
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110979
    reference: chr 3
allele count: 3
allele frequency: 2.501751225858101e-5
allele num: 119916
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.896A>G
  hgvsp: ENSP00000354340.4:p.Tyr299Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.854A>G
  hgvsp: ENSP00000340041.4:p.Tyr285Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*370A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.773A>G
  hgvsp: ENSP00000400294.2:p.Tyr258Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.448A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.365A>G
  hgvsp: ENSP00000440085.1:p.Tyr122Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*339A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr299Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

3-69110981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110981
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110981
    reference: chr 3
allele count: 109
allele frequency: 9.07864270127101e-4
allele num: 120062
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.894G>A
  hgvsp: ENST00000361055.4:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.446G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.771G>A
  hgvsp: ENST00000415609.2:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.852G>A
  hgvsp: ENST00000349511.4:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*368G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*337G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.363G>A
  hgvsp: ENST00000540295.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9131
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr298Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

3-69110988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110988
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110988
    reference: chr 3
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.764G>A
  hgvsp: ENSP00000400294.2:p.Gly255Asp
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.439G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.356G>A
  hgvsp: ENSP00000440085.1:p.Gly119Asp
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*330G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*361G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.887G>A
  hgvsp: ENSP00000354340.4:p.Gly296Asp
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.845G>A
  hgvsp: ENSP00000340041.4:p.Gly282Asp
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly296Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/3-69110989-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110989
    reference: chr 3
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*329G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.886G>T
  hgvsp: ENSP00000354340.4:p.Gly296Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.844G>T
  hgvsp: ENSP00000340041.4:p.Gly282Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.355G>T
  hgvsp: ENSP00000440085.1:p.Gly119Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.763G>T
  hgvsp: ENSP00000400294.2:p.Gly255Cys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.438G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*360G>T
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly296Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

3-69110990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110990
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110990
    reference: chr 3
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.354G>A
  hgvsp: ENST00000540295.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.762G>A
  hgvsp: ENST00000415609.2:c.762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.437G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*328G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.843G>A
  hgvsp: ENST00000349511.4:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.885G>A
  hgvsp: ENST00000361055.4:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg295Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

3-69110995-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110995
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110995
    reference: chr 3
allele count: 5
allele frequency: 4.138319180281737e-5
allele num: 120822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.838A>G
  hgvsp: ENSP00000340041.4:p.Ile280Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*354A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.757A>G
  hgvsp: ENSP00000400294.2:p.Ile253Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.432A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.880A>G
  hgvsp: ENSP00000354340.4:p.Ile294Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*323A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.349A>G
  hgvsp: ENSP00000440085.1:p.Ile117Val
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32958
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile294Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-69110996-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110996
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110996
    reference: chr 3
allele count: 4
allele frequency: 3.309943068979214e-5
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*353T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*322T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.756T>C
  hgvsp: ENST00000415609.2:c.756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.837T>C
  hgvsp: ENST00000349511.4:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.879T>C
  hgvsp: ENST00000361055.4:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.431T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.348T>C
  hgvsp: ENST00000540295.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn293Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

3-69110997-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69110997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69110997
    reference: chr 3
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.347A>G
  hgvsp: ENSP00000440085.1:p.Asn116Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.430A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.755A>G
  hgvsp: ENSP00000400294.2:p.Asn252Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*352A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.878A>G
  hgvsp: ENSP00000354340.4:p.Asn293Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.836A>G
  hgvsp: ENSP00000340041.4:p.Asn279Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*321A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32957
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn293Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

3-69111005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111005
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111005
    reference: chr 3
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.422A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*313A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.870A>G
  hgvsp: ENST00000361055.4:c.870A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.339A>G
  hgvsp: ENST00000540295.1:c.339A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.747A>G
  hgvsp: ENST00000415609.2:c.747A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*344A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.828A>G
  hgvsp: ENST00000349511.4:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser290Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-69111006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111006
    reference: chr 3
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*312C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.746C>T
  hgvsp: ENSP00000400294.2:p.Ser249Leu
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.869C>T
  hgvsp: ENSP00000354340.4:p.Ser290Leu
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.338C>T
  hgvsp: ENSP00000440085.1:p.Ser113Leu
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*343C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.421C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.827C>T
  hgvsp: ENSP00000340041.4:p.Ser276Leu
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser290Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

3-69111008-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111008
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111008
    reference: chr 3
allele count: 3
allele frequency: 2.477782549803429e-5
allele num: 121076
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.867A>C
  hgvsp: ENST00000361055.4:c.867A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*341A>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.825A>C
  hgvsp: ENST00000349511.4:c.825A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.336A>C
  hgvsp: ENST00000540295.1:c.336A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.744A>C
  hgvsp: ENST00000415609.2:c.744A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.419A>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*310A>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala289Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-69111010-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111010
    reference: chr 3
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*339G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*308G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.823G>T
  hgvsp: ENSP00000340041.4:p.Ala275Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.417G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.334G>T
  hgvsp: ENSP00000440085.1:p.Ala112Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.742G>T
  hgvsp: ENSP00000400294.2:p.Ala248Ser
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.865G>T
  hgvsp: ENSP00000354340.4:p.Ala289Ser
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala289Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-69111017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111017
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111017
    reference: chr 3
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.816A>G
  hgvsp: ENST00000349511.4:c.816A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.410A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.858A>G
  hgvsp: ENST00000361055.4:c.858A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.327A>G
  hgvsp: ENST00000540295.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.735A>G
  hgvsp: ENST00000415609.2:c.735A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*332A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*301A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu286Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

3-69111019-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111019
    reference: chr 3
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*299C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*330C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.733C>G
  hgvsp: ENSP00000400294.2:p.Leu245Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.814C>G
  hgvsp: ENSP00000340041.4:p.Leu272Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.408C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.856C>G
  hgvsp: ENSP00000354340.4:p.Leu286Val
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.325C>G
  hgvsp: ENSP00000440085.1:p.Leu109Val
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu286Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-69111029-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111030
    reference: chr 3
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*288dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.397dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.314dupT
  hgvsp: ENSP00000440085.1:p.Gln106ProfsTer11
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.722dupT
  hgvsp: ENSP00000400294.2:p.Gln242ProfsTer11
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.845dupT
  hgvsp: ENSP00000354340.4:p.Gln283ProfsTer11
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.803dupT
  hgvsp: ENSP00000340041.4:p.Gln269ProfsTer11
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*319dupT
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln283ProfsTer11
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

3-69111032-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111032
    reference: chr 3
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.395T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.312T>A
  hgvsp: ENST00000540295.1:c.312T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.720T>A
  hgvsp: ENST00000415609.2:c.720T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*286T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.843T>A
  hgvsp: ENST00000361055.4:c.843T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.801T>A
  hgvsp: ENST00000349511.4:c.801T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*317T>A
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile281Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

3-69111038-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111038
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111038
    reference: chr 3
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.795A>C
  hgvsp: ENSP00000340041.4:p.Gln265His
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*280A>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.837A>C
  hgvsp: ENSP00000354340.4:p.Gln279His
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*311A>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.306A>C
  hgvsp: ENSP00000440085.1:p.Gln102His
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.714A>C
  hgvsp: ENSP00000400294.2:p.Gln238His
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.389A>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln279His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

3-69111039-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111039
    reference: chr 3
allele count: 7
allele frequency: 5.780346820809248e-5
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.794A>G
  hgvsp: ENSP00000340041.4:p.Gln265Arg
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.305A>G
  hgvsp: ENSP00000440085.1:p.Gln102Arg
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.713A>G
  hgvsp: ENSP00000400294.2:p.Gln238Arg
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*310A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.836A>G
  hgvsp: ENSP00000354340.4:p.Gln279Arg
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*279A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.388A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln279Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-69111040-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111040
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111040
    reference: chr 3
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.712C>A
  hgvsp: ENSP00000400294.2:p.Gln238Lys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*278C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.793C>A
  hgvsp: ENSP00000340041.4:p.Gln265Lys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.304C>A
  hgvsp: ENSP00000440085.1:p.Gln102Lys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*309C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.835C>A
  hgvsp: ENSP00000354340.4:p.Gln279Lys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.387C>A
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln279Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-69111042-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111042
    reference: chr 3
allele count: 2
allele frequency: 1.651582215762701e-5
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*307T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.385T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*276T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.791T>A
  hgvsp: ENSP00000340041.4:p.Ile264Lys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.833T>A
  hgvsp: ENSP00000354340.4:p.Ile278Lys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.710T>A
  hgvsp: ENSP00000400294.2:p.Ile237Lys
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.302T>A
  hgvsp: ENSP00000440085.1:p.Ile101Lys
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile278Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

3-69111056-ATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111056
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111054
    reference: chr 3
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.369_370delGA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.694_695delGA
  hgvsp: ENSP00000400294.2:p.Asp232Ter
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*291_*292delGA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*260_*261delGA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.817_818delGA
  hgvsp: ENSP00000354340.4:p.Asp273Ter
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.286_287delGA
  hgvsp: ENSP00000440085.1:p.Asp96Ter
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.775_776delGA
  hgvsp: ENSP00000340041.4:p.Asp259Ter
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32956
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp273Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: ATC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-69111073-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111073
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111073
    reference: chr 3
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.679G>T
  hgvsp: ENSP00000400294.2:p.Val227Phe
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.271G>T
  hgvsp: ENSP00000440085.1:p.Val91Phe
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.760G>T
  hgvsp: ENSP00000340041.4:p.Val254Phe
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*245G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*276G>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.802G>T
  hgvsp: ENSP00000354340.4:p.Val268Phe
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.354G>T
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val268Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-69111078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111078
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111078
    reference: chr 3
allele count: 1
allele frequency: 8.320298199487469e-6
allele num: 120188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674A>G
  hgvsp: ENSP00000400294.2:p.Glu225Gly
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266A>G
  hgvsp: ENSP00000440085.1:p.Glu89Gly
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797A>G
  hgvsp: ENSP00000354340.4:p.Glu266Gly
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755A>G
  hgvsp: ENSP00000340041.4:p.Glu252Gly
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu266Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

3-69111084-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111085
    reference: chr 3
allele count: 528
allele frequency: 5.80347329083315e-3
allele num: 90980
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-7dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-7dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-7dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-7dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-7dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-7dupT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-7dupT
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 4.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 3.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 2.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 2.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 1.75e1
  variant carriers: 48
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

3-69111084-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111083
    reference: chr 3
allele count: 14449
allele frequency: 1.588151242031216e-1
allele num: 90980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-7delT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-7delT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-7delT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-7delT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-7delT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-7delT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-7delT
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 1210
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 526
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 1630
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 623
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 521
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 733
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 6.25e1
  variant carriers: 1895
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 6.75e1
  variant carriers: 1692
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 7.25e1
  variant carriers: 1320
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 783
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 697
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 308
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.75e1
  variant carriers: 2093
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 1926
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 7.75e1
  variant carriers: 929
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 399
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 2.75e1
  variant carriers: 1003
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 997
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 9.25e1
  variant carriers: 389
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 4.75e1
  variant carriers: 825
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 959
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 1.25e1
  variant carriers: 968
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 729
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 842
hgvs: c.797-7delT
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: TA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

3-69111084-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111082
    reference: chr 3
allele count: 40
allele frequency: 4.396570674873599e-4
allele num: 90980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-8_349-7delTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-8_674-7delTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-8_755-7delTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-8_797-7delTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-8_*240-7delTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-8_266-7delTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-8_*271-7delTT
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 5
hgvs: c.797-8_797-7delTT
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: TAA
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-69111084-T-TAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111086
    reference: chr 3
allele count: 28
allele frequency: 3.077599472411519e-4
allele num: 90980
alternate allele: TAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-8_266-7dupTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-8_*271-7dupTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-8_349-7dupTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-8_755-7dupTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-8_674-7dupTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-8_797-7dupTT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-8_*240-7dupTT
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9497
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/3-69111089-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111089
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111089
    reference: chr 3
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-11T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-11T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-11T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-11T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-11T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-11T>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-11T>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

3-69111090-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111090
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111090
    reference: chr 3
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-12T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-12T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-12T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-12T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-12T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-12T>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-12T>A
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

3-69111094-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111094
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111092
    reference: chr 3
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-18_797-17delCT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-18_349-17delCT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-18_*271-17delCT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-18_266-17delCT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-18_755-17delCT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-18_674-17delCT
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-18_*240-17delCT
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: AAG
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

3-69111095-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111096
    reference: chr 3
allele count: 1
allele frequency: 8.418358756776778e-6
allele num: 118788
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-18dupC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-18dupC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-18dupC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-18dupC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-18dupC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-18dupC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-18dupC
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-69111095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111095
    reference: chr 3
allele count: 2
allele frequency: 1.683671751355356e-5
allele num: 118788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-17T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-17T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-17T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-17T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-17T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-17T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-17T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-69111097-G-GGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111099
    reference: chr 3
allele count: 181
allele frequency: 1.673972957475538e-3
allele num: 108126
alternate allele: GGA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-21_*240-20dupTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-21_755-20dupTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-21_797-20dupTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-21_349-20dupTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-21_*271-20dupTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-21_674-20dupTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-21_266-20dupTC
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-69111097-G-GGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111101
    reference: chr 3
allele count: 4
allele frequency: 3.699387751327156e-5
allele num: 108126
alternate allele: GGAGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-23_755-20dupTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-23_266-20dupTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-23_*240-20dupTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-23_797-20dupTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-23_*271-20dupTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-23_349-20dupTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-23_674-20dupTCTC
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-69111097-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111095
    reference: chr 3
allele count: 2779
allele frequency: 2.570149640234541e-2
allele num: 108126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-21_755-20delTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-21_*271-20delTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-21_*240-20delTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-21_349-20delTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-21_674-20delTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-21_266-20delTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-21_797-20delTC
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 604
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 382
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.25e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.75e1
  variant carriers: 595
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 5.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 5800
  bin: 6.25e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.5e0
  variant carriers: 229
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 245
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 8.25e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 7.25e1
  variant carriers: 118
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: GGA
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-69111097-GGAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111093
    reference: chr 3
allele count: 36
allele frequency: 3.32944897619444e-4
allele num: 108126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-23_266-20delTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-23_797-20delTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-23_349-20delTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-23_*240-20delTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-23_755-20delTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-23_674-20delTCTC
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-23_*271-20delTCTC
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: GGAGA
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-69111097-GGAGAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111091
    reference: chr 3
allele count: 2
allele frequency: 1.849693875663578e-5
allele num: 108126
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16398
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10676
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.651909607506277e-5
  allele num: 60536
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8996
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 798
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: GGAGAGA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-69111100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111100
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111100
    reference: chr 3
allele count: 1
allele frequency: 9.742980182778309e-6
allele num: 102638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-22C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-22C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-22C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-22C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-22C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-22C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-22C>T
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17098
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
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genotype quality: GenotypeQuality
  all individuals: 872
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-69111104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111104
    reference: chr 3
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-26C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-26C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-26C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-26C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-26C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-26C>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-26C>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2018
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 466
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genotype depth: GenotypeDepth
  all individuals: 909
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
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genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8222
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

3-69111107-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111107
    reference: chr 3
allele count: 3
allele frequency: 2.512562814070352e-5
allele num: 119400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-29T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-29T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-29T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-29T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-29T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-29T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-29T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23812
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

3-69111109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111109
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111109
    reference: chr 3
allele count: 8
allele frequency: 6.701177731986397e-5
allele num: 119382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-31T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-31T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-31T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-31T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-31T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-31T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-31T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23813
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-69111114-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111114
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111114
    reference: chr 3
allele count: 1
allele frequency: 8.41779184484326e-6
allele num: 118796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-36C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-36C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-36C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-36C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-36C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-36C>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-36C>A
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-69111118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111118
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111118
    reference: chr 3
allele count: 3
allele frequency: 2.523171121465458e-5
allele num: 118898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-40T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-40T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-40T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-40T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-40T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-40T>C
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-40T>C
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-69111125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111125
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111125
    reference: chr 3
allele count: 2
allele frequency: 1.688704257223433e-5
allele num: 118434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-47A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-47A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-47A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-47A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-47A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-47A>G
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-47A>G
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-69111127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111127
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111127
    reference: chr 3
allele count: 256
allele frequency: 2.164172795671654e-3
allele num: 118290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-49G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-49G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-49G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-49G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-49G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-49G>A
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-49G>A
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-69111128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111128
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111128
    reference: chr 3
allele count: 8
allele frequency: 6.754588898833145e-5
allele num: 118438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.674-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*240-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.349-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.755-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.266-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.797-50C>T
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*271-50C>T
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23751
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-69111189-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69111189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 69111188
    reference: chr 3
allele count: 1
allele frequency: 8.507307777380771e-6
allele num: 117546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000440085
  ensembl transcript: ENST00000540295
  gene symbol: UBA3
  hgvsc: ENST00000540295.1:c.265+38delA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl transcript: ENST00000461522
  gene symbol: UBA3
  hgvsc: ENST00000461522.1:n.348+38delA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000354340
  ensembl transcript: ENST00000361055
  gene symbol: UBA3
  hgvsc: ENST00000361055.4:c.796+38delA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000417547
  ensembl transcript: ENST00000461934
  gene symbol: UBA3
  hgvsc: ENST00000461934.1:c.*270+38delA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000400294
  ensembl transcript: ENST00000415609
  gene symbol: UBA3
  hgvsc: ENST00000415609.2:c.673+38delA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000419077
  ensembl transcript: ENST00000465627
  gene symbol: UBA3
  hgvsc: ENST00000465627.1:c.*239+38delA
  variant of: http://identifiers.org/hgnc/12470
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144744
  ensembl protein: ENSP00000340041
  ensembl transcript: ENST00000349511
  gene symbol: UBA3
  hgvsc: ENST00000349511.4:c.754+38delA
  variant of: http://identifiers.org/hgnc/12470
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
reference allele: AT

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

GenotypeQuality
all individuals: 2202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 3.663698e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.326e1

FS
type: SiteQuality
SIO_000300: 5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.229e0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 43816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 9.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
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SIO_000300: 1.17e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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DP
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SIO_000300: 3.663423e6

FS
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-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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variant carriers: 1

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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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: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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African
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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FS
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SIO_000300: 2.545e0

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: -8.2e-2

QD
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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SIO_000300: 7.32e0

FS
type: SiteQuality
SIO_000300: 3.827e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 1.946282600233554e-4
allele num: 10276
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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SIO_000300: -2.68e-1

VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 1.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

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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bin: 8.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10236
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.081e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-3

InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.659279e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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South Asian
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Other
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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allele num: 11572
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East Asian
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BaseQRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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African
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele frequency: 6.058403004967891e-5
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Latino
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European (Finnish)
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Other
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VQSLOD
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ReadPosRankSum
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QD
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DP
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.92e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.649694e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2710
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

European (Finnish)
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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: 906
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e0

ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.323e1

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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variant carriers: 0

African
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allele count: 1
allele frequency: 1.001803245842517e-4
allele num: 9982
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.642986e6

QD
type: SiteQuality
SIO_000300: 1.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 3.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.332e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.507e-1

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 3.633021e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.233e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 11542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 3.443e0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

DP
type: SiteQuality
SIO_000300: 3.620884e6

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

GenotypeQuality
all individuals: 212
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.620884e6

FS
type: SiteQuality
SIO_000300: 3.443e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

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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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65086
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.158211721102618e-3
allele num: 8634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
allele frequency: 6.137228427642077e-5
allele num: 65176
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

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

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

African
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allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65310
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Other
type: Population
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allele num: 854
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 7.102272727272727e-5
allele num: 14080
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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East Asian
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Other
type: Population
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allele frequency: 1.1441647597254e-3
allele num: 874
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele num: 6614
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65646
num of homozygotes: 0

African
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allele count: 37
allele frequency: 3.570739239529048e-3
allele num: 10362
num of homozygotes: 1

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.54e1

BaseQRankSum
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SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-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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GenotypeQuality
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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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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14678
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
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.211e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
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SIO_000300: 2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
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SIO_000300: 1.07e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: -1.219e-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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14982
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.155e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

DP
type: SiteQuality
SIO_000300: 2.828952e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15474
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: 892
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: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.602e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 2.837995e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.925051334702259e-4
allele num: 15584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66212
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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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: 11572
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

FS
type: SiteQuality
SIO_000300: 1.124e1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.273e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

DP
type: SiteQuality
SIO_000300: 2.83978e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 109

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 3605
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variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.961671948091142e-4
allele num: 66270
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.382435537401073e-5
allele num: 15668
num of homozygotes: 0

African
type: Population
allele count: 91
allele frequency: 8.756735950731332e-3
allele num: 10392
num of homozygotes: 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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 1.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 2.850103e6

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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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.483e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

DP
type: SiteQuality
SIO_000300: 2.849931e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 9.706e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.733e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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
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allele num: 900
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South Asian
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allele frequency: 6.239860227130913e-5
allele num: 16026
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.043e0

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.517892584350755e-5
allele num: 66508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: -8.110000000000001e-1

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

European (Non-Finnish)
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allele frequency: 6.013229104028864e-5
allele num: 66520
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.503171692270691e-5
allele num: 66526
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 1.926040061633282e-4
allele num: 10384
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South Asian
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Other
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16348
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: -1.223e0

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

European (Non-Finnish)
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allele frequency: 4.505180958101817e-5
allele num: 66590
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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East Asian
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African
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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Latino
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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Other
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African
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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African
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European (Finnish)
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Latino
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 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: 8644
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

DP
type: SiteQuality
SIO_000300: 2.852593e6

FS
type: SiteQuality
SIO_000300: 5.106e0

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 9.25e1
variant carriers: 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: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.56e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.067e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.851335e6

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 2216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.008738476322033e-5
allele num: 66602
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: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.169e0

DP
type: SiteQuality
SIO_000300: 2.851934e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2475
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.153e0

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.623e1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

DP
type: SiteQuality
SIO_000300: 2.851243e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

GenotypeQuality
all individuals: 2909
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32956
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2974
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
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: 11574
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: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.996e0

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

DP
type: SiteQuality
SIO_000300: 2.850818e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

GenotypeQuality
all individuals: 993
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 10328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 2.842834e6

FS
type: SiteQuality
SIO_000300: 1.0302e1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.677e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 1427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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
all individuals: 5905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
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: 16234
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.83071e6

VQSLOD
type: SiteQuality
SIO_000300: -3.412e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

FS
type: SiteQuality
SIO_000300: 9.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.289e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 2974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32959
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.317e0

DP
type: SiteQuality
SIO_000300: 2.830302e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
all individuals: 1367
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2737
bin: 1.25e1
variant carriers: 54

GenotypeQuality
all individuals: 6700
bin: 2.5e0
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GenotypeQuality
all individuals: 1578
bin: 5.75e1
variant carriers: 15

GenotypeQuality
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bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2331
bin: 4.25e1
variant carriers: 41

GenotypeQuality
all individuals: 1827
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3739
bin: 6.25e1
variant carriers: 14

GenotypeQuality
all individuals: 9497
bin: 9.75e1
variant carriers: 164

GenotypeQuality
all individuals: 1875
bin: 5.25e1
variant carriers: 19

African
type: Population
allele count: 39
allele frequency: 5.053122570614149e-3
allele num: 7718
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 8.450704225352112e-3
allele num: 710
num of homozygotes: 0

South Asian
type: Population
allele count: 271
allele frequency: 2.59927105313639e-2
allele num: 10426
num of homozygotes: 0

East Asian
type: Population
allele count: 62
allele frequency: 9.024745269286753e-3
allele num: 6870
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 2.067064768029398e-3
allele num: 8708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 131
allele frequency: 2.575495438817238e-3
allele num: 50864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.759324419422942e-4
allele num: 5684
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.159e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

FS
type: SiteQuality
SIO_000300: 1.068e0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 3.520499e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 9.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 2565
bin: 1.75e1
variant carriers: 979

GenotypeQuality
all individuals: 2379
bin: 7.25e1
variant carriers: 576

GenotypeQuality
all individuals: 6700
bin: 2.5e0
variant carriers: 786

GenotypeQuality
all individuals: 2161
bin: 7.75e1
variant carriers: 499

GenotypeQuality
all individuals: 3037
bin: 6.75e1
variant carriers: 660

GenotypeQuality
all individuals: 2642
bin: 3.75e1
variant carriers: 985

GenotypeQuality
all individuals: 1827
bin: 8.25e1
variant carriers: 424

GenotypeQuality
all individuals: 9497
bin: 9.75e1
variant carriers: 3592

GenotypeQuality
all individuals: 3578
bin: 2.25e1
variant carriers: 987

GenotypeQuality
all individuals: 2331
bin: 4.25e1
variant carriers: 898

GenotypeQuality
all individuals: 1551
bin: 8.75e1
variant carriers: 402

GenotypeQuality
all individuals: 3739
bin: 6.25e1
variant carriers: 711

African
type: Population
allele count: 963
allele frequency: 1.247732573205494e-1
allele num: 7718
num of homozygotes: 0

Other
type: Population
allele count: 107
allele frequency: 1.507042253521127e-1
allele num: 710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8204
allele frequency: 1.612928593897452e-1
allele num: 50864
num of homozygotes: 0

Latino
type: Population
allele count: 1721
allele frequency: 1.976343592099219e-1
allele num: 8708
num of homozygotes: 0

South Asian
type: Population
allele count: 2359
allele frequency: 2.262612699021677e-1
allele num: 10426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 240
allele frequency: 4.22237860661506e-2
allele num: 5684
num of homozygotes: 0

East Asian
type: Population
allele count: 855
allele frequency: 1.244541484716157e-1
allele num: 6870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.159e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

FS
type: SiteQuality
SIO_000300: 1.068e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 3.520499e6

GenotypeQuality
all individuals: 1875
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6700
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 1551
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2642
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3037
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3739
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 9497
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2043
bin: 4.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.296738631143776e-4
allele num: 8708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 4.325259515570934e-4
allele num: 50864
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 8.733624454148472e-4
allele num: 6870
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 7.673124880107424e-4
allele num: 10426
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.816901408450704e-3
allele num: 710
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

DP
type: SiteQuality
SIO_000300: 3.520499e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 1.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.159e-1

GenotypeQuality
all individuals: 2737
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6700
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2642
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.932054105064486e-4
allele num: 50864
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 6.890215893431327e-4
allele num: 8708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.918281220026856e-4
allele num: 10426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.520499e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.159e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.068e0

QD
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
all individuals: 1853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
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: 8610
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.785e0

QD
type: SiteQuality
SIO_000300: 1.538e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.071e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.37e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.383999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.356077e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26528
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5030
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.381e0

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.356112e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

GenotypeQuality
all individuals: 3759
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.010713563776026e-4
allele num: 9894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.888e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 3.353415e6

QD
type: SiteQuality
SIO_000300: 6.28e0

GenotypeQuality
all individuals: 293
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517634917744187e-5
allele num: 65892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 3.353214e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 2.918e0

VQSLOD
type: SiteQuality
SIO_000300: -7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26393
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.448284756254837e-5
allele num: 15508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.918e0

DP
type: SiteQuality
SIO_000300: 3.353214e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeQuality
all individuals: 1321
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16398
bin: 9.75e1
variant carriers: 173

GenotypeQuality
all individuals: 5800
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3449
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3071
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 4
allele frequency: 4.44642063139173e-4
allele num: 8996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.391250770178681e-4
allele num: 12984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.14748248975816e-4
allele num: 60536
num of homozygotes: 0

Latino
type: Population
allele count: 64
allele frequency: 5.994754589733983e-3
allele num: 10676
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.2531328320802e-3
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 92
allele frequency: 1.174368138881797e-2
allele num: 7834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 3.150002e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

QD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 1321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16398
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2765
bin: 2.5e0
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GenotypeQuality
all individuals: 1118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.60763843002511e-5
allele num: 60536
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.150002e6

QD
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

GenotypeQuality
all individuals: 1572
bin: 3.75e1
variant carriers: 190

GenotypeQuality
all individuals: 1118
bin: 1.75e1
variant carriers: 231

GenotypeQuality
all individuals: 4424
bin: 6.75e1
variant carriers: 139

GenotypeQuality
all individuals: 1135
bin: 1.25e1
variant carriers: 245

GenotypeQuality
all individuals: 1311
bin: 7.5e0
variant carriers: 227

GenotypeQuality
all individuals: 1810
bin: 3.25e1
variant carriers: 203

GenotypeQuality
all individuals: 1115
bin: 5.75e1
variant carriers: 158

GenotypeQuality
all individuals: 2446
bin: 9.25e1
variant carriers: 66

GenotypeQuality
all individuals: 16398
bin: 9.75e1
variant carriers: 456

GenotypeQuality
all individuals: 1321
bin: 4.75e1
variant carriers: 174

South Asian
type: Population
allele count: 439
allele frequency: 3.381084411583488e-2
allele num: 12984
num of homozygotes: 0

East Asian
type: Population
allele count: 220
allele frequency: 2.808271636456472e-2
allele num: 7834
num of homozygotes: 0

Latino
type: Population
allele count: 258
allele frequency: 2.416635443986512e-2
allele num: 10676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1543
allele frequency: 2.548896524382186e-2
allele num: 60536
num of homozygotes: 0

Other
type: Population
allele count: 24
allele frequency: 3.007518796992481e-2
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 208
allele frequency: 2.312138728323699e-2
allele num: 8996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 87
allele frequency: 1.380514122500793e-2
allele num: 6302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.150002e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 1321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16398
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 3449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 4.44642063139173e-4
allele num: 8996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.586797841954935e-4
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.469010175763182e-4
allele num: 60536
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.556762832521544e-4
allele num: 10676
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.701786814540974e-5
allele num: 12984
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.552974214960429e-4
allele num: 7834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 3.150002e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

East Asian
type: Population
allele count: 1
allele frequency: 1.276487107480215e-4
allele num: 7834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 3.150002e6

GenotypeQuality
all individuals: 3209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.731421843617979e-5
allele num: 57756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

DP
type: SiteQuality
SIO_000300: 3.169712e6

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.724e0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5128
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.476e1

DP
type: SiteQuality
SIO_000300: 2.954862e6

MQ
type: SiteQuality
SIO_000300: 6.019e1

VQSLOD
type: SiteQuality
SIO_000300: -1.756e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
all individuals: 775
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3735
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53953938807009e-5
allele num: 66086
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.952816e6

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
SIO_000300: 1.695e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.476e0

GenotypeQuality
all individuals: 4060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3728
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8390
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15836
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.210727041588474e-4
allele num: 66076
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.952738e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.999e1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 1.755e1

GenotypeQuality
all individuals: 382
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 3.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.435006435006435e-5
allele num: 15540
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.395e1

DP
type: SiteQuality
SIO_000300: 2.948129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

VQSLOD
type: SiteQuality
SIO_000300: -1.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.63e1

GenotypeQuality
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23738
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 998
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4938
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.919385796545106e-4
allele num: 15630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.940564e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

VQSLOD
type: SiteQuality
SIO_000300: -1.872e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

FS
type: SiteQuality
SIO_000300: 1.2247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23708
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 628
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6375
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521884702014975e-5
allele num: 65708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.93131e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e0

VQSLOD
type: SiteQuality
SIO_000300: -3.305e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 2.0182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.761e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3661
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1134
bin: 3.75e1
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GenotypeQuality
all individuals: 23869
bin: 9.75e1
variant carriers: 245

GenotypeQuality
all individuals: 3043
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 272
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 975
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3577
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2779
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740341106856944e-4
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.56968773800457e-5
allele num: 65650
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.356823002592505e-4
allele num: 8486
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: 247
allele frequency: 1.603896103896104e-2
allele num: 15400
num of homozygotes: 3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.415e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 2.929253e6

GenotypeQuality
all individuals: 3945
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 7.067137809187279e-4
allele num: 8490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65684
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

DP
type: SiteQuality
SIO_000300: 2.92783e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 778
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10631
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22043
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0