3-52598159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598159
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598159
    reference: chr 3
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*996A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3782A>G
  hgvsp: ENSP00000338302.4:p.Tyr1261Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3782A>G
  hgvsp: ENSP00000386593.1:p.Tyr1261Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14875T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3782A>G
  hgvsp: ENSP00000296302.7:p.Tyr1261Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3779A>G
  hgvsp: ENSP00000387775.1:p.Tyr1260Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3707A>G
  hgvsp: ENSP00000378307.3:p.Tyr1236Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3827A>G
  hgvsp: ENSP00000386601.1:p.Tyr1276Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3827A>G
  hgvsp: ENSP00000386643.3:p.Tyr1276Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3686A>G
  hgvsp: ENSP00000349213.4:p.Tyr1229Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3707A>G
  hgvsp: ENSP00000386529.1:p.Tyr1236Cys
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1236Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

3-52598181-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598181
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3757A>G
  hgvsp: ENSP00000387775.1:p.Ile1253Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3760A>G
  hgvsp: ENSP00000296302.7:p.Ile1254Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3760A>G
  hgvsp: ENSP00000338302.4:p.Ile1254Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3685A>G
  hgvsp: ENSP00000386529.1:p.Ile1229Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3805A>G
  hgvsp: ENSP00000386643.3:p.Ile1269Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14853T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*974A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3664A>G
  hgvsp: ENSP00000349213.4:p.Ile1222Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3685A>G
  hgvsp: ENSP00000378307.3:p.Ile1229Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3805A>G
  hgvsp: ENSP00000386601.1:p.Ile1269Val
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3760A>G
  hgvsp: ENSP00000386593.1:p.Ile1254Val
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1229Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-52598183-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598183
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598183
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3683A>C
  hgvsp: ENSP00000378307.3:p.Asp1228Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3755A>C
  hgvsp: ENSP00000387775.1:p.Asp1252Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3683A>C
  hgvsp: ENSP00000386529.1:p.Asp1228Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3758A>C
  hgvsp: ENSP00000338302.4:p.Asp1253Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3758A>C
  hgvsp: ENSP00000386593.1:p.Asp1253Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3662A>C
  hgvsp: ENSP00000349213.4:p.Asp1221Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3758A>C
  hgvsp: ENSP00000296302.7:p.Asp1253Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3803A>C
  hgvsp: ENSP00000386601.1:p.Asp1268Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3803A>C
  hgvsp: ENSP00000386643.3:p.Asp1268Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14851T>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*972A>C
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1228Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-52598197-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598197
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3669A>C
  hgvsp: ENSP00000378307.3:p.Glu1223Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*958A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14837T>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3789A>C
  hgvsp: ENSP00000386643.3:p.Glu1263Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3648A>C
  hgvsp: ENSP00000349213.4:p.Glu1216Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3744A>C
  hgvsp: ENSP00000338302.4:p.Glu1248Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3744A>C
  hgvsp: ENSP00000296302.7:p.Glu1248Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3669A>C
  hgvsp: ENSP00000386529.1:p.Glu1223Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3741A>C
  hgvsp: ENSP00000387775.1:p.Glu1247Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3744A>C
  hgvsp: ENSP00000386593.1:p.Glu1248Asp
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3789A>C
  hgvsp: ENSP00000386601.1:p.Glu1263Asp
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu1223Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-52598210-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598210
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598210
    reference: chr 3
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3656G>T
  hgvsp: ENSP00000386529.1:p.Cys1219Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3731G>T
  hgvsp: ENSP00000386593.1:p.Cys1244Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*945G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3635G>T
  hgvsp: ENSP00000349213.4:p.Cys1212Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14824C>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3776G>T
  hgvsp: ENSP00000386643.3:p.Cys1259Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3731G>T
  hgvsp: ENSP00000338302.4:p.Cys1244Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3728G>T
  hgvsp: ENSP00000387775.1:p.Cys1243Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3776G>T
  hgvsp: ENSP00000386601.1:p.Cys1259Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3731G>T
  hgvsp: ENSP00000296302.7:p.Cys1244Phe
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3656G>T
  hgvsp: ENSP00000378307.3:p.Cys1219Phe
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1219Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-52598247-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598247
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598247
    reference: chr 3
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3619A>C
  hgvsp: ENSP00000386529.1:p.Lys1207Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3694A>C
  hgvsp: ENSP00000296302.7:p.Lys1232Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3619A>C
  hgvsp: ENSP00000378307.3:p.Lys1207Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3739A>C
  hgvsp: ENSP00000386601.1:p.Lys1247Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3694A>C
  hgvsp: ENSP00000338302.4:p.Lys1232Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3739A>C
  hgvsp: ENSP00000386643.3:p.Lys1247Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*908A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3694A>C
  hgvsp: ENSP00000386593.1:p.Lys1232Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3691A>C
  hgvsp: ENSP00000387775.1:p.Lys1231Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14787T>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3598A>C
  hgvsp: ENSP00000349213.4:p.Lys1200Gln
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1207Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-52598253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598253
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598253
    reference: chr 3
allele count: 3
allele frequency: 2.492853819052051e-5
allele num: 120344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14781A>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3692-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3617-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3737-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3617-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3692-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*906-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3692-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3689-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3737-4T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3596-4T>C
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.3617-4T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-52598280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598280
    reference: chr 3
allele count: 3
allele frequency: 2.523807921391796e-5
allele num: 118868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3692-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*906-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3737-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3689-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3692-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3692-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3737-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14754G>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3617-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3596-31C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3617-31C>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

3-52598286-A-AGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598289
    reference: chr 3
allele count: 1
allele frequency: 8.438818565400844e-6
allele num: 118500
alternate allele: AGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3692-38_3692-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3617-38_3617-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3692-38_3692-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3689-38_3689-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3617-38_3617-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14748_152-14747insGGG
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3596-38_3596-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3692-38_3692-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3737-38_3737-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3737-38_3737-37insCCC
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*906-38_*906-37insCCC
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

3-52598292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598292
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598292
    reference: chr 3
allele count: 2
allele frequency: 1.698802344347235e-5
allele num: 117730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3737-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3737-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3617-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3692-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*906-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3689-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3596-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3617-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3692-43C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14742G>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3692-43C>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12153
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-52598293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598293
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598293
    reference: chr 3
allele count: 1
allele frequency: 8.506439374606578e-6
allele num: 117558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3692-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3737-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3617-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3692-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3689-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14741T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3737-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3596-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3617-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3692-44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*906-44A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52598296-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598296
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598296
    reference: chr 3
allele count: 15
allele frequency: 1.281437944231821e-4
allele num: 117056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3689-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14738T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3617-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3737-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3692-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3737-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3596-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3692-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3617-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3692-47A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*906-47A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21759
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

3-52598299-T-TGTAGTCCAGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598310
    reference: chr 3
allele count: 1
allele frequency: 8.683872312341519e-6
allele num: 115156
alternate allele: TGTAGTCCAGTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52598300-TACTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52598300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52598296
    reference: chr 3
allele count: 3
allele frequency: 2.601231249458077e-5
allele num: 115330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*906-55_*906-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3692-55_3692-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3596-55_3596-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3692-55_3692-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3692-55_3692-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-14730_152-14727delAACT
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3737-55_3737-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3617-55_3617-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3617-55_3617-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3689-55_3689-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3737-55_3737-52delTAGT
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6211
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: TACTA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-52610513-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610513
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610513
    reference: chr 3
allele count: 5791
allele frequency: 4.952366292096396e-2
allele num: 116934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3736+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3688+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3595+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3736+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3691+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3616+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3616+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3691+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2521T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3691+44A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*905+44A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.25e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 4.25e1
  variant carriers: 566
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 3.25e1
  variant carriers: 615
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 13726
  bin: 2.75e1
  variant carriers: 534
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 4.75e1
  variant carriers: 417
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 8702
  bin: 2.25e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 3.75e1
  variant carriers: 618
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.25e1
  variant carriers: 335
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 7
num of homozygotes: 657
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-52610517-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610517
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610517
    reference: chr 3
allele count: 16
allele frequency: 1.366003585759413e-4
allele num: 117130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3736+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3688+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3736+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2517T>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3691+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3616+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3691+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*905+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3691+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3616+40A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3595+40A>C
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-52610522-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610522
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610522
    reference: chr 3
allele count: 12
allele frequency: 1.022721461809876e-4
allele num: 117334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3688+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3691+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3616+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2512T>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3736+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3595+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*905+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3616+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3736+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3691+35A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3691+35A>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10392
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

3-52610527-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610527
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610527
    reference: chr 3
allele count: 1
allele frequency: 8.496609852668785e-6
allele num: 117694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3595+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3691+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*905+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3736+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3736+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3691+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3691+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3688+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3616+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3616+30T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2507A>T
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-52610529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610529
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610529
    reference: chr 3
allele count: 9
allele frequency: 7.629316921824933e-5
allele num: 117966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3616+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*905+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3688+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3736+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3691+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3616+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3691+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3736+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3691+28C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2505G>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3595+28C>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-52610566-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610566
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610566
    reference: chr 3
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3679T>G
  hgvsp: ENSP00000387775.1:p.Cys1227Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3727T>G
  hgvsp: ENSP00000386643.3:p.Cys1243Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3607T>G
  hgvsp: ENSP00000378307.3:p.Cys1203Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3682T>G
  hgvsp: ENSP00000296302.7:p.Cys1228Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*896T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3682T>G
  hgvsp: ENSP00000386593.1:p.Cys1228Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3682T>G
  hgvsp: ENSP00000338302.4:p.Cys1228Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3586T>G
  hgvsp: ENSP00000349213.4:p.Cys1196Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3727T>G
  hgvsp: ENSP00000386601.1:p.Cys1243Gly
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2468A>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3607T>G
  hgvsp: ENSP00000386529.1:p.Cys1203Gly
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1203Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

3-52610569-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610569
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610569
    reference: chr 3
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3679A>G
  hgvsp: ENSP00000386593.1:p.Thr1227Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3604A>G
  hgvsp: ENSP00000378307.3:p.Thr1202Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3604A>G
  hgvsp: ENSP00000386529.1:p.Thr1202Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3724A>G
  hgvsp: ENSP00000386601.1:p.Thr1242Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3724A>G
  hgvsp: ENSP00000386643.3:p.Thr1242Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3583A>G
  hgvsp: ENSP00000349213.4:p.Thr1195Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3679A>G
  hgvsp: ENSP00000296302.7:p.Thr1227Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*893A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3676A>G
  hgvsp: ENSP00000387775.1:p.Thr1226Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3679A>G
  hgvsp: ENSP00000338302.4:p.Thr1227Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2465T>C
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1202Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-52610581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610581
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2453T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3664A>G
  hgvsp: ENSP00000387775.1:p.Thr1222Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3667A>G
  hgvsp: ENSP00000296302.7:p.Thr1223Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3667A>G
  hgvsp: ENSP00000338302.4:p.Thr1223Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3592A>G
  hgvsp: ENSP00000378307.3:p.Thr1198Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3571A>G
  hgvsp: ENSP00000349213.4:p.Thr1191Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3712A>G
  hgvsp: ENSP00000386643.3:p.Thr1238Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*881A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3592A>G
  hgvsp: ENSP00000386529.1:p.Thr1198Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3667A>G
  hgvsp: ENSP00000386593.1:p.Thr1223Ala
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3712A>G
  hgvsp: ENSP00000386601.1:p.Thr1238Ala
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr1198Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

3-52610591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610591
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610591
    reference: chr 3
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3657T>C
  hgvsp: ENST00000337303.4:c.3657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3582T>C
  hgvsp: ENST00000394830.3:c.3582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3582T>C
  hgvsp: ENST00000410007.1:c.3582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2443A>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3657T>C
  hgvsp: ENST00000409057.1:c.3657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*871T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3702T>C
  hgvsp: ENST00000409114.3:c.3702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3561T>C
  hgvsp: ENST00000356770.4:c.3561T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3654T>C
  hgvsp: ENST00000423351.1:c.3654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3657T>C
  hgvsp: ENST00000296302.7:c.3657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3702T>C
  hgvsp: ENST00000409767.1:c.3702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn1194Asn
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

3-52610605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610605
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610605
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3643G>A
  hgvsp: ENSP00000338302.4:p.Val1215Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3568G>A
  hgvsp: ENSP00000378307.3:p.Val1190Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3643G>A
  hgvsp: ENSP00000296302.7:p.Val1215Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3640G>A
  hgvsp: ENSP00000387775.1:p.Val1214Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3688G>A
  hgvsp: ENSP00000386643.3:p.Val1230Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2429C>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3643G>A
  hgvsp: ENSP00000386593.1:p.Val1215Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3547G>A
  hgvsp: ENSP00000349213.4:p.Val1183Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3568G>A
  hgvsp: ENSP00000386529.1:p.Val1190Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3688G>A
  hgvsp: ENSP00000386601.1:p.Val1230Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*857G>A
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1190Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-52610613-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610613
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610613
    reference: chr 3
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3632A>G
  hgvsp: ENSP00000387775.1:p.Lys1211Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3635A>G
  hgvsp: ENSP00000338302.4:p.Lys1212Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3560A>G
  hgvsp: ENSP00000386529.1:p.Lys1187Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3680A>G
  hgvsp: ENSP00000386601.1:p.Lys1227Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3680A>G
  hgvsp: ENSP00000386643.3:p.Lys1227Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3635A>G
  hgvsp: ENSP00000296302.7:p.Lys1212Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3539A>G
  hgvsp: ENSP00000349213.4:p.Lys1180Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3635A>G
  hgvsp: ENSP00000386593.1:p.Lys1212Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3560A>G
  hgvsp: ENSP00000378307.3:p.Lys1187Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*849A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2421T>C
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1187Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-52610630-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610630
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610630
    reference: chr 3
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3543C>A
  hgvsp: ENST00000394830.3:c.3543C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3522C>A
  hgvsp: ENST00000356770.4:c.3522C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*832C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3543C>A
  hgvsp: ENST00000410007.1:c.3543C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3615C>A
  hgvsp: ENST00000423351.1:c.3615C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3618C>A
  hgvsp: ENST00000337303.4:c.3618C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3663C>A
  hgvsp: ENST00000409767.1:c.3663C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3663C>A
  hgvsp: ENST00000409114.3:c.3663C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2404G>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3618C>A
  hgvsp: ENST00000409057.1:c.3618C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3618C>A
  hgvsp: ENST00000296302.7:c.3618C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1181Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-52610643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610643
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610643
    reference: chr 3
allele count: 5
allele frequency: 4.120788554097712e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3605C>T
  hgvsp: ENSP00000386593.1:p.Thr1202Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3605C>T
  hgvsp: ENSP00000296302.7:p.Thr1202Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3509C>T
  hgvsp: ENSP00000349213.4:p.Thr1170Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3530C>T
  hgvsp: ENSP00000378307.3:p.Thr1177Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*819C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3605C>T
  hgvsp: ENSP00000338302.4:p.Thr1202Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3650C>T
  hgvsp: ENSP00000386643.3:p.Thr1217Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3650C>T
  hgvsp: ENSP00000386601.1:p.Thr1217Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2391G>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3602C>T
  hgvsp: ENSP00000387775.1:p.Thr1201Ile
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3530C>T
  hgvsp: ENSP00000386529.1:p.Thr1177Ile
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1177Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

3-52610648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610648
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610648
    reference: chr 3
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3645A>G
  hgvsp: ENST00000409767.1:c.3645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3600A>G
  hgvsp: ENST00000296302.7:c.3600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3600A>G
  hgvsp: ENST00000337303.4:c.3600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3525A>G
  hgvsp: ENST00000410007.1:c.3525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3600A>G
  hgvsp: ENST00000409057.1:c.3600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3504A>G
  hgvsp: ENST00000356770.4:c.3504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3645A>G
  hgvsp: ENST00000409114.3:c.3645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2386T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3597A>G
  hgvsp: ENST00000423351.1:c.3597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3525A>G
  hgvsp: ENST00000394830.3:c.3525A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*814A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1175Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

3-52610651-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610651
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610651
    reference: chr 3
allele count: 45515
allele frequency: 3.752452718188863e-1
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3597A>T
  hgvsp: ENST00000409057.1:c.3597A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3642A>T
  hgvsp: ENST00000409767.1:c.3642A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3642A>T
  hgvsp: ENST00000409114.3:c.3642A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2383T>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3594A>T
  hgvsp: ENST00000423351.1:c.3594A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*811A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3522A>T
  hgvsp: ENST00000394830.3:c.3522A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3597A>T
  hgvsp: ENST00000337303.4:c.3597A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3501A>T
  hgvsp: ENST00000356770.4:c.3501A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3597A>T
  hgvsp: ENST00000296302.7:c.3597A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3522A>T
  hgvsp: ENST00000410007.1:c.3522A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 5.75e1
  variant carriers: 3014
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 2.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.25e1
  variant carriers: 3237
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 8.75e1
  variant carriers: 1773
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.25e1
  variant carriers: 361
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 4.25e1
  variant carriers: 1205
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 6.25e1
  variant carriers: 3306
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 2.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 2234
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 6.75e1
  variant carriers: 3370
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.25e1
  variant carriers: 1305
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.75e1
  variant carriers: 2755
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 9.75e1
  variant carriers: 8525
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 726
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 5.25e1
  variant carriers: 2389
genotype quality: GenotypeQuality
hgvs: p.Pro1174Pro
num of homozygotes: 9240
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

3-52610654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610654
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610654
    reference: chr 3
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3591C>T
  hgvsp: ENST00000423351.1:c.3591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3639C>T
  hgvsp: ENST00000409767.1:c.3639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3594C>T
  hgvsp: ENST00000337303.4:c.3594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*808C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3639C>T
  hgvsp: ENST00000409114.3:c.3639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3519C>T
  hgvsp: ENST00000394830.3:c.3519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3594C>T
  hgvsp: ENST00000409057.1:c.3594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3498C>T
  hgvsp: ENST00000356770.4:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3519C>T
  hgvsp: ENST00000410007.1:c.3519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3594C>T
  hgvsp: ENST00000296302.7:c.3594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2380G>A
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1173His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-52610694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610694
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610694
    reference: chr 3
allele count: 2
allele frequency: 1.664170411050091e-5
allele num: 120180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3479G>A
  hgvsp: ENSP00000386529.1:p.Arg1160Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3479G>A
  hgvsp: ENSP00000378307.3:p.Arg1160Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3554G>A
  hgvsp: ENSP00000338302.4:p.Arg1185Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2340C>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3554G>A
  hgvsp: ENSP00000386593.1:p.Arg1185Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3458G>A
  hgvsp: ENSP00000349213.4:p.Arg1153Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3551G>A
  hgvsp: ENSP00000387775.1:p.Arg1184Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3599G>A
  hgvsp: ENSP00000386643.3:p.Arg1200Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*768G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3599G>A
  hgvsp: ENSP00000386601.1:p.Arg1200Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3554G>A
  hgvsp: ENSP00000296302.7:p.Arg1185Gln
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1160Gln
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

3-52610702-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610702
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610702
    reference: chr 3
allele count: 1
allele frequency: 8.368901163277262e-6
allele num: 119490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3543A>C
  hgvsp: ENST00000423351.1:c.3543A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3471A>C
  hgvsp: ENST00000394830.3:c.3471A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3450A>C
  hgvsp: ENST00000356770.4:c.3450A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3546A>C
  hgvsp: ENST00000296302.7:c.3546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3591A>C
  hgvsp: ENST00000409767.1:c.3591A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3546A>C
  hgvsp: ENST00000409057.1:c.3546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2332T>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3471A>C
  hgvsp: ENST00000410007.1:c.3471A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*760A>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3546A>C
  hgvsp: ENST00000337303.4:c.3546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3591A>C
  hgvsp: ENST00000409114.3:c.3591A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1157Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-52610724-G-GAAAATATAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610724
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610733
    reference: chr 3
allele count: 35
allele frequency: 3.189240414054527e-4
allele num: 109744
alternate allele: GAAAATATAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20601
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-52610737-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610737
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610737
    reference: chr 3
allele count: 1
allele frequency: 9.955994504291034e-6
allele num: 100442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*748-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3534-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3459-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2297T>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3534-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3579-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3579-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3534-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3459-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3438-23A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3531-23A>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  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: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-52610740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610740
    reference: chr 3
allele count: 1
allele frequency: 1.016012354710233e-5
allele num: 98424
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3459-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*748-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3534-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3579-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2294C>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3459-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3531-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3438-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3534-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3579-26G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3534-26G>A
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21980
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

3-52610741-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610741
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610740
    reference: chr 3
allele count: 1
allele frequency: 1.01990861618799e-5
allele num: 98048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3459-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3438-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3531-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3534-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3579-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3534-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3579-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*748-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3534-28delA
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2291delT
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3459-28delA
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: AT
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-52610744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610744
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610744
    reference: chr 3
allele count: 1
allele frequency: 1.040279627163782e-5
allele num: 96128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3534-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*748-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3531-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3438-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3459-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3534-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3534-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3459-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3579-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3579-30T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2290A>G
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52610747-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52610747
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52610747
    reference: chr 3
allele count: 1
allele frequency: 1.061683830555261e-5
allele num: 94190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3534-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3531-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-2287A>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3579-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3438-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3459-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3579-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3534-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3459-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*748-33T>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3534-33T>A
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

3-52612985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52612985
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52612985
    reference: chr 3
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-49T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+85A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+85A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

3-52612986-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52612986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52612986
    reference: chr 3
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-48G>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+84C>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+84C>A
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-52612988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52612988
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52612988
    reference: chr 3
allele count: 1
allele frequency: 8.331250520703158e-6
allele num: 120030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-46C>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+82G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+82G>A
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11880
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52612993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52612993
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52612993
    reference: chr 3
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-41T>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+77A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+77A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

3-52612995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52612995
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52612995
    reference: chr 3
allele count: 5
allele frequency: 4.163474669420111e-5
allele num: 120092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-39C>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+75G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+75G>A
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-52612996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52612996
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52612996
    reference: chr 3
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-38G>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+74C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+74C>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15415
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-52613014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613014
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613014
    reference: chr 3
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-20A>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+56T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+56T>C
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7960
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-52613015-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613015
    reference: chr 3
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-19C>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+55G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+55G>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
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: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

3-52613015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613015
    reference: chr 3
allele count: 2
allele frequency: 1.651855033202286e-5
allele num: 121076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-19C>T
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+55G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+55G>A
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-52613021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613021
    reference: chr 3
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-13C>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+49G>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+49G>T
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-52613021-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613021
    reference: chr 3
allele count: 2
allele frequency: 1.649783878311941e-5
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.152-13C>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+49G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+49G>C
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/3-52613038-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613038
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613038
    reference: chr 3
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+32T>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.156A>C
  hgvsp: ENST00000476842.1:c.156A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/37257
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser52Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-52613039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613039
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.157A>G
  hgvsp: ENSP00000418000.1:p.Thr53Ala
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+31T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+31T>C
  variant of: http://identifiers.org/hgnc/30064
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8031
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr53Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-52613046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613046
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.164C>T
  hgvsp: ENSP00000418000.1:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+24G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+24G>A
  variant of: http://identifiers.org/hgnc/30064
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser55Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52613048-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613048
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613048
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.166T>C
  hgvsp: ENSP00000418000.1:p.Ser56Pro
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+22A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+22A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser56Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-52613051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613051
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.169C>T
  hgvsp: ENST00000476842.1:c.169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+19G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+19G>A
  variant of: http://identifiers.org/hgnc/30064
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu57Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-52613052-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613052
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.170T>A
  hgvsp: ENSP00000418000.1:p.Leu57Gln
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+18A>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+18A>T
  variant of: http://identifiers.org/hgnc/30064
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu57Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

3-52613052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613052
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.170T>C
  hgvsp: ENSP00000418000.1:p.Leu57Pro
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+18A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+18A>G
  variant of: http://identifiers.org/hgnc/30064
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu57Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

3-52613059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613059
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613059
    reference: chr 3
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.177A>G
  hgvsp: ENST00000476842.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578+11T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533+11T>C
  variant of: http://identifiers.org/hgnc/30064
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln59Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-52613070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613070
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613070
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*747G>A
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3437G>A
  hgvsp: ENSP00000349213.4:p.Arg1146Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3533G>A
  hgvsp: ENSP00000338302.4:p.Arg1178Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3530G>A
  hgvsp: ENSP00000387775.1:p.Arg1177Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3458G>A
  hgvsp: ENSP00000386529.1:p.Arg1153Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3533G>A
  hgvsp: ENSP00000296302.7:p.Arg1178Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3533G>A
  hgvsp: ENSP00000386593.1:p.Arg1178Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3458G>A
  hgvsp: ENSP00000378307.3:p.Arg1153Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3578G>A
  hgvsp: ENSP00000386643.3:p.Arg1193Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3578G>A
  hgvsp: ENSP00000386601.1:p.Arg1193Lys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1153Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-52613077-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613077
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613077
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*740G>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3526G>C
  hgvsp: ENSP00000296302.7:p.Val1176Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3451G>C
  hgvsp: ENSP00000386529.1:p.Val1151Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3526G>C
  hgvsp: ENSP00000338302.4:p.Val1176Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3430G>C
  hgvsp: ENSP00000349213.4:p.Val1144Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3571G>C
  hgvsp: ENSP00000386643.3:p.Val1191Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3526G>C
  hgvsp: ENSP00000386593.1:p.Val1176Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3523G>C
  hgvsp: ENSP00000387775.1:p.Val1175Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*15C>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3451G>C
  hgvsp: ENSP00000378307.3:p.Val1151Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3571G>C
  hgvsp: ENSP00000386601.1:p.Val1191Leu
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1151Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-52613081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613081
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613081
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3567T>C
  hgvsp: ENST00000409114.3:c.3567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3447T>C
  hgvsp: ENST00000394830.3:c.3447T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*19A>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3567T>C
  hgvsp: ENST00000409767.1:c.3567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3522T>C
  hgvsp: ENST00000409057.1:c.3522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3447T>C
  hgvsp: ENST00000410007.1:c.3447T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3522T>C
  hgvsp: ENST00000296302.7:c.3522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3522T>C
  hgvsp: ENST00000337303.4:c.3522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3426T>C
  hgvsp: ENST00000356770.4:c.3426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3519T>C
  hgvsp: ENST00000423351.1:c.3519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*736T>C
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro1149Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

3-52613086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613086
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613086
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3562C>T
  hgvsp: ENSP00000386643.3:p.Arg1188Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3517C>T
  hgvsp: ENSP00000386593.1:p.Arg1173Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3421C>T
  hgvsp: ENSP00000349213.4:p.Arg1141Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*731C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3442C>T
  hgvsp: ENSP00000378307.3:p.Arg1148Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3562C>T
  hgvsp: ENSP00000386601.1:p.Arg1188Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3517C>T
  hgvsp: ENSP00000338302.4:p.Arg1173Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3442C>T
  hgvsp: ENSP00000386529.1:p.Arg1148Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3514C>T
  hgvsp: ENSP00000387775.1:p.Arg1172Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3517C>T
  hgvsp: ENSP00000296302.7:p.Arg1173Cys
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1148Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-52613092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613092
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613092
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3556C>T
  hgvsp: ENST00000409114.3:c.3556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3436C>T
  hgvsp: ENST00000394830.3:c.3436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3511C>T
  hgvsp: ENST00000296302.7:c.3511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*725C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3508C>T
  hgvsp: ENST00000423351.1:c.3508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3556C>T
  hgvsp: ENST00000409767.1:c.3556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3511C>T
  hgvsp: ENST00000409057.1:c.3511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3511C>T
  hgvsp: ENST00000337303.4:c.3511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3436C>T
  hgvsp: ENST00000410007.1:c.3436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3415C>T
  hgvsp: ENST00000356770.4:c.3415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1146Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-52613107-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613107
    reference: chr 3
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3496A>C
  hgvsp: ENSP00000338302.4:p.Ile1166Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3541A>C
  hgvsp: ENSP00000386601.1:p.Ile1181Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3400A>C
  hgvsp: ENSP00000349213.4:p.Ile1134Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3496A>C
  hgvsp: ENSP00000386593.1:p.Ile1166Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3421A>C
  hgvsp: ENSP00000386529.1:p.Ile1141Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3421A>C
  hgvsp: ENSP00000378307.3:p.Ile1141Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3496A>C
  hgvsp: ENSP00000296302.7:p.Ile1166Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3493A>C
  hgvsp: ENSP00000387775.1:p.Ile1165Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3541A>C
  hgvsp: ENSP00000386643.3:p.Ile1181Leu
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*45T>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*710A>C
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1141Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

3-52613120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613120
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613120
    reference: chr 3
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3528C>T
  hgvsp: ENST00000409114.3:c.3528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3387C>T
  hgvsp: ENST00000356770.4:c.3387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3483C>T
  hgvsp: ENST00000337303.4:c.3483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3408C>T
  hgvsp: ENST00000394830.3:c.3408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3528C>T
  hgvsp: ENST00000409767.1:c.3528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3408C>T
  hgvsp: ENST00000410007.1:c.3408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3480C>T
  hgvsp: ENST00000423351.1:c.3480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3483C>T
  hgvsp: ENST00000296302.7:c.3483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*697C>T
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3483C>T
  hgvsp: ENST00000409057.1:c.3483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1136Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-52613136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613136
    reference: chr 3
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3392T>C
  hgvsp: ENSP00000378307.3:p.Met1131Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3464T>C
  hgvsp: ENSP00000387775.1:p.Met1155Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3467T>C
  hgvsp: ENSP00000338302.4:p.Met1156Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3512T>C
  hgvsp: ENSP00000386643.3:p.Met1171Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*74A>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3467T>C
  hgvsp: ENSP00000386593.1:p.Met1156Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*681T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3467T>C
  hgvsp: ENSP00000296302.7:p.Met1156Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3512T>C
  hgvsp: ENSP00000386601.1:p.Met1171Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3392T>C
  hgvsp: ENSP00000386529.1:p.Met1131Thr
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3371T>C
  hgvsp: ENSP00000349213.4:p.Met1124Thr
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1131Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

3-52613148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613148
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3455A>G
  hgvsp: ENSP00000338302.4:p.His1152Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3500A>G
  hgvsp: ENSP00000386643.3:p.His1167Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3380A>G
  hgvsp: ENSP00000378307.3:p.His1127Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3452A>G
  hgvsp: ENSP00000387775.1:p.His1151Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3455A>G
  hgvsp: ENSP00000296302.7:p.His1152Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3455A>G
  hgvsp: ENSP00000386593.1:p.His1152Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*669A>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3380A>G
  hgvsp: ENSP00000386529.1:p.His1127Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3500A>G
  hgvsp: ENSP00000386601.1:p.His1167Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3359A>G
  hgvsp: ENSP00000349213.4:p.His1120Arg
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*86T>C
  variant of: http://identifiers.org/hgnc/37257
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1127Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-52613159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613159
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613159
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*97A>G
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3369T>C
  hgvsp: ENST00000410007.1:c.3369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3444T>C
  hgvsp: ENST00000409057.1:c.3444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3441T>C
  hgvsp: ENST00000423351.1:c.3441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*658T>C
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3444T>C
  hgvsp: ENST00000337303.4:c.3444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3489T>C
  hgvsp: ENST00000409767.1:c.3489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3369T>C
  hgvsp: ENST00000394830.3:c.3369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3489T>C
  hgvsp: ENST00000409114.3:c.3489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3444T>C
  hgvsp: ENST00000296302.7:c.3444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3348T>C
  hgvsp: ENST00000356770.4:c.3348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1123Phe
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

3-52613165-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52613165
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52613165
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386643
  ensembl transcript: ENST00000409114
  gene symbol: PBRM1
  hgvsc: ENST00000409114.3:c.3483C>G
  hgvsp: ENSP00000386643.3:p.His1161Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000387775
  ensembl transcript: ENST00000423351
  gene symbol: PBRM1
  hgvsc: ENST00000423351.1:c.3435C>G
  hgvsp: ENSP00000387775.1:p.His1145Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386529
  ensembl transcript: ENST00000410007
  gene symbol: PBRM1
  hgvsc: ENST00000410007.1:c.3363C>G
  hgvsp: ENSP00000386529.1:p.His1121Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168273
  ensembl protein: ENSP00000418000
  ensembl transcript: ENST00000476842
  gene symbol: SMIM4
  hgvsc: ENST00000476842.1:c.*103G>C
  variant of: http://identifiers.org/hgnc/37257
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000349213
  ensembl transcript: ENST00000356770
  gene symbol: PBRM1
  hgvsc: ENST00000356770.4:c.3342C>G
  hgvsp: ENSP00000349213.4:p.His1114Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386601
  ensembl transcript: ENST00000409767
  gene symbol: PBRM1
  hgvsc: ENST00000409767.1:c.3483C>G
  hgvsp: ENSP00000386601.1:p.His1161Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000338302
  ensembl transcript: ENST00000337303
  gene symbol: PBRM1
  hgvsc: ENST00000337303.4:c.3438C>G
  hgvsp: ENSP00000338302.4:p.His1146Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000404579
  ensembl transcript: ENST00000412587
  gene symbol: PBRM1
  hgvsc: ENST00000412587.1:c.*652C>G
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000296302
  ensembl transcript: ENST00000296302
  gene symbol: PBRM1
  hgvsc: ENST00000296302.7:c.3438C>G
  hgvsp: ENSP00000296302.7:p.His1146Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000386593
  ensembl transcript: ENST00000409057
  gene symbol: PBRM1
  hgvsc: ENST00000409057.1:c.3438C>G
  hgvsp: ENSP00000386593.1:p.His1146Gln
  variant of: http://identifiers.org/hgnc/30064
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163939
  ensembl protein: ENSP00000378307
  ensembl transcript: ENST00000394830
  gene symbol: PBRM1
  hgvsc: ENST00000394830.3:c.3363C>G
  hgvsp: ENSP00000378307.3:p.His1121Gln
  variant of: http://identifiers.org/hgnc/30064
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1121Gln
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 76
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 8.25e1
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: 10394
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: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.601e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

FS
type: SiteQuality
SIO_000300: 2.212e0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

DP
type: SiteQuality
SIO_000300: 1.588022e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeDepth
all individuals: 89
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6795
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 1.588137e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeDepth
all individuals: 15120
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 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: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 1.588207e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeDepth
all individuals: 110
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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VQSLOD
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DP
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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SIO_000300: 1.47e0

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

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

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

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
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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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Latino
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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FS
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SIO_000300: 8.058e0

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66420
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East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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South Asian
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 16462
num of homozygotes: 0

East 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: 4.526388846977881e-5
allele num: 66278
num of homozygotes: 0

African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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QD
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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SIO_000300: 4.61e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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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African
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allele num: 9752
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South Asian
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DP
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.030290541932825e-4
allele num: 9706
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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South Asian
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European (Finnish)
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Other
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 3.08794466403162e-5
allele num: 64768
num of homozygotes: 0

Latino
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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FS
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207437816952427e-4
allele num: 8282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64622
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.039e1

QD
type: SiteQuality
SIO_000300: 2.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.405555e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeQuality
all individuals: 4156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 394
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
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GenotypeQuality
all individuals: 1644
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4850
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3370
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 5814
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.457371872722856e-3
allele num: 8234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.664759298420201e-5
allele num: 64312
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 1.401537e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

FS
type: SiteQuality
SIO_000300: 3.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 6216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
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GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584133320660267e-5
allele num: 63126
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.201e0

DP
type: SiteQuality
SIO_000300: 1.401795e6

QD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.852e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.237e0

GenotypeQuality
all individuals: 168
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5440
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
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variant carriers: 0

GenotypeQuality
all individuals: 1943
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variant carriers: 0

GenotypeQuality
all individuals: 561
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variant carriers: 0

GenotypeQuality
all individuals: 5207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5972
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582228410493339e-5
allele num: 63202
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.054690329590728e-5
allele num: 11044
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.176652254478072e-5
allele num: 16190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.59e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.401664e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2368
bin: 9.25e1
variant carriers: 31

GenotypeQuality
all individuals: 199
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 7.75e1
variant carriers: 39

GenotypeQuality
all individuals: 16284
bin: 6.25e1
variant carriers: 25

GenotypeQuality
all individuals: 1164
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 806
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 923
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1661
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1751
bin: 7.25e1
variant carriers: 25

GenotypeQuality
all individuals: 468
bin: 5.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1247
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 4453
bin: 6.75e1
variant carriers: 34

GenotypeQuality
all individuals: 2650
bin: 8.25e1
variant carriers: 44

GenotypeQuality
all individuals: 21565
bin: 9.75e1
variant carriers: 4913

GenotypeQuality
all individuals: 1416
bin: 8.75e1
variant carriers: 25

African
type: Population
allele count: 3624
allele frequency: 3.518446601941748e-1
allele num: 10300
num of homozygotes: 623

East Asian
type: Population
allele count: 2
allele frequency: 2.33590282644242e-4
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1270
allele frequency: 1.939938288577277e-2
allele num: 65466
num of homozygotes: 19

Other
type: Population
allele count: 30
allele frequency: 3.480278422273782e-2
allele num: 862
num of homozygotes: 3

South Asian
type: Population
allele count: 520
allele frequency: 3.805620608899297e-2
allele num: 13664
num of homozygotes: 9

European (Finnish)
type: Population
allele count: 54
allele frequency: 8.184298272203698e-3
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 291
allele frequency: 2.534401672182546e-2
allele num: 11482
num of homozygotes: 3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 2.083327e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.807e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

QD
type: SiteQuality
SIO_000300: 1.904e1

GenotypeQuality
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17852
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
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: 862
num of homozygotes: 0

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

South Asian
type: Population
allele count: 16
allele frequency: 1.163636363636364e-3
allele num: 13750
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65534
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.571e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

DP
type: SiteQuality
SIO_000300: 2.034672e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 1.179e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

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

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20367
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
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variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17866
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.088155104513784e-4
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.623578202665203e-5
allele num: 65586
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

QD
type: SiteQuality
SIO_000300: 1.839e1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.044711e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 2510
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21575
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
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GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17875
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.514e0

FS
type: SiteQuality
SIO_000300: 1.1681e1

DP
type: SiteQuality
SIO_000300: 2.057413e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17891
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1498
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variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.083280104632418e-5
allele num: 65754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14318
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.660918200885575e-4
allele num: 8582
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.046e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

FS
type: SiteQuality
SIO_000300: 4.709e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 2.065228e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5794
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 3141
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 2.114709e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 17950
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
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: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.402e1

FS
type: SiteQuality
SIO_000300: 9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

DP
type: SiteQuality
SIO_000300: 2.115057e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeDepth
all individuals: 1042
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variant carriers: 0

GenotypeQuality
all individuals: 17957
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variant carriers: 1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5828
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24278
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.397e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
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SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 2.116668e6

FS
type: SiteQuality
SIO_000300: 1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2589
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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GenotypeDepth
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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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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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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.009e1

BaseQRankSum
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MQ
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SIO_000300: 5.953e1

VQSLOD
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SIO_000300: 3.33e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: 1.04e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.117476e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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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
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

East Asian
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.117518e6

InbreedingCoeff
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MQ
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SIO_000300: 5.96e1

BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -9.6e-2

VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17973
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 2.118056e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 9.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.146e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeDepth
all individuals: 13663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 17985
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24173
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5819
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.77e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: -1.002e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

FS
type: SiteQuality
SIO_000300: 5.154e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

DP
type: SiteQuality
SIO_000300: 2.11859e6

GenotypeDepth
all individuals: 2502
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24154
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3176
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variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17982
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.459999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 2.118532e6

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

FS
type: SiteQuality
SIO_000300: 7.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: -2.159e0

GenotypeDepth
all individuals: 1943
bin: 4.75e1
variant carriers: 1787

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 28

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 17

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 10

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 18326
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 49

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3241
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 27

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 13

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 42

GenotypeQuality
all individuals: 613
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 37026
bin: 9.75e1
variant carriers: 36030

East Asian
type: Population
allele count: 3718
allele frequency: 4.304237091919426e-1
allele num: 8638
num of homozygotes: 823

Latino
type: Population
allele count: 6235
allele frequency: 5.393598615916955e-1
allele num: 11560
num of homozygotes: 1704

European (Non-Finnish)
type: Population
allele count: 27263
allele frequency: 4.087161189733749e-1
allele num: 66704
num of homozygotes: 5551

South Asian
type: Population
allele count: 3529
allele frequency: 2.138269510421716e-1
allele num: 16504
num of homozygotes: 408

European (Finnish)
type: Population
allele count: 2613
allele frequency: 3.953101361573373e-1
allele num: 6610
num of homozygotes: 534

African
type: Population
allele count: 1795
allele frequency: 1.730954676952748e-1
allele num: 10370
num of homozygotes: 147

Other
type: Population
allele count: 362
allele frequency: 3.986784140969163e-1
allele num: 908
num of homozygotes: 73

DP
type: SiteQuality
SIO_000300: 3.767646e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.66e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeDepth
all individuals: 2995
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8359
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.412e0

VQSLOD
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 3.316e0

DP
type: SiteQuality
SIO_000300: 1.807265e6

QD
type: SiteQuality
SIO_000300: 1.397e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeDepth
all individuals: 566
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
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variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 8127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 42982
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.035822707953856e-4
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

DP
type: SiteQuality
SIO_000300: 1.782073e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeDepth
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1434
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.992006394884092e-5
allele num: 10008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

DP
type: SiteQuality
SIO_000300: 1.765445e6

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
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GenotypeQuality
all individuals: 31116
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 486
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variant carriers: 3

GenotypeQuality
all individuals: 12318
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 6288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.355479498020267e-5
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.165581879718824e-3
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Latino
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South Asian
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African
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Other
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.50195253829979e-4
allele num: 6658
num of homozygotes: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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Other
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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FS
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MQ
type: SiteQuality
SIO_000300: 5.865e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.51148730350665e-4
allele num: 6616
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52522
num of homozygotes: 0

Latino
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MQ
type: SiteQuality
SIO_000300: 5.521e1

DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -5.3e-3

FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -2.706e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.439e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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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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South Asian
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allele num: 14614
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Latino
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Other
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African
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.186802753382388e-4
allele num: 8426
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

DP
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11472
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

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

ReadPosRankSum
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SIO_000300: 9.61e-1

MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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SIO_000300: 2.79e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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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: 5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

African
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allele count: 2
allele frequency: 1.961553550411926e-4
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.216989168796398e-4
allele num: 16434
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -2.82e-1

BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -2.19e-1

InbreedingCoeff
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DP
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FS
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SIO_000300: 3.836e0

ReadPosRankSum
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SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
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SIO_000300: 8.63e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
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SIO_000300: 5.5e-3

ReadPosRankSum
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SIO_000300: -2.6e-1

BaseQRankSum
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SIO_000300: 5.11e0

VQSLOD
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SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.854883e6

QD
type: SiteQuality
SIO_000300: 1.501e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.935733643050716e-4
allele num: 10332
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 9.550000000000001e0

ReadPosRankSum
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DP
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VQSLOD
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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SIO_000300: 1.619e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Other
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num of homozygotes: 0

European (Finnish)
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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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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QD
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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East Asian
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allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

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

African
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Other
type: Population
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num of homozygotes: 0

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

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

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

QD
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ClippingRankSum
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VQSLOD
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FS
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SIO_000300: 2.603e0

MQRankSum
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InbreedingCoeff
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SIO_000300: 2.1e-3

BaseQRankSum
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SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.899181e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 10372
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 frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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SIO_000300: 9.94e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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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Latino
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allele frequency: 0.0e0
allele num: 11572
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: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -9.17e-1

ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
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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
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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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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East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16510
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Other
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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DP
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Latino
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Other
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MQ
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MQRankSum
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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African
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East Asian
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VQSLOD
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2651
bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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SIO_000300: 6.22e0

DP
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SIO_000300: 1.903663e6

VQSLOD
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ClippingRankSum
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SIO_000300: -9.25e-1

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 5.442e0

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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: 3.75e1
variant carriers: 0

Latino
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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: 6614
num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
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SIO_000300: 1.27e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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QD
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SIO_000300: 1.35e1

FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -9.97e-1

DP
type: SiteQuality
SIO_000300: 1.903703e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
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: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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SIO_000300: 3.082e0

ClippingRankSum
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SIO_000300: -1.726e0

BaseQRankSum
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SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 1.903895e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
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

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.949e1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.0e0

DP
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SIO_000300: 1.904289e6

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

DP
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66740
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African
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
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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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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DP
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 1.816860465116279e-4
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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MQ
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SIO_000300: 5.968e1

ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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DP
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SIO_000300: 1.904791e6

BaseQRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16512
num of homozygotes: 0

European (Finnish)
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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 num: 66740
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Other
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East Asian
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Latino
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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European (Finnish)
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European (Non-Finnish)
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num of homozygotes: 0

African
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Latino
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East Asian
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South Asian
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QD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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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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South Asian
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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South Asian
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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MQRankSum
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QD
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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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MQ
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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