17-3593967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593967
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593967
    reference: chr 17
allele count: 1
allele frequency: 8.396869646995599e-6
allele num: 119092
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.368G>A
  hgvsp: ENSP00000455681.1:p.Gly123Asp
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.368G>A
  hgvsp: ENSP00000225328.5:p.Gly123Asp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.603G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.368G>A
  hgvsp: ENSP00000467707.1:p.Gly123Asp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.210G>A
  hgvsp: ENSP00000449495.1:p.Gly71Asp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.296G>A
  hgvsp: ENSP00000447545.1:p.Gly99Asp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.188G>A
  hgvsp: ENSP00000450006.1:p.Gly63Asp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.368G>A
  hgvsp: ENSP00000415370.1:p.Gly123Asp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.368G>A
  hgvsp: ENSP00000448355.1:p.Gly123Asp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.296G>A
  hgvsp: ENSP00000342161.3:p.Gly99Asp
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly123Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-3593973-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593973
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593973
    reference: chr 17
allele count: 1
allele frequency: 8.414108777598277e-6
allele num: 118848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.204A>T
  hgvsp: ENSP00000449495.1:p.Asn69Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.362A>T
  hgvsp: ENSP00000467707.1:p.Asn121Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.182A>T
  hgvsp: ENSP00000450006.1:p.Asn61Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.362A>T
  hgvsp: ENSP00000225328.5:p.Asn121Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.290A>T
  hgvsp: ENSP00000342161.3:p.Asn97Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.362A>T
  hgvsp: ENSP00000455681.1:p.Asn121Ile
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.362A>T
  hgvsp: ENSP00000448355.1:p.Asn121Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.290A>T
  hgvsp: ENSP00000447545.1:p.Asn97Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.362A>T
  hgvsp: ENSP00000415370.1:p.Asn121Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.597A>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn121Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

17-3593983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593983
    reference: chr 17
allele count: 2
allele frequency: 1.688932425813643e-5
allele num: 118418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-9T>C
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-9T>C
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-9T>C
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

17-3593984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593984
    reference: chr 17
allele count: 3
allele frequency: 2.534597252496578e-5
allele num: 118362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-10C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-10C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-10C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-3593984-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593984
    reference: chr 17
allele count: 2
allele frequency: 1.689731501664385e-5
allele num: 118362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-10C>G
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-10C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-10C>G
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5859
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-3593990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593990
    reference: chr 17
allele count: 1
allele frequency: 8.486226853816256e-6
allele num: 117838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-16C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-16C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-16C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-3593991-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593991
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593991
    reference: chr 17
allele count: 3
allele frequency: 2.546213780108978e-5
allele num: 117822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-17C>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-17C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-17C>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-3593993-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3593993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3593993
    reference: chr 17
allele count: 30
allele frequency: 2.552452907243862e-4
allele num: 117534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-19G>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-19G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-19G>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31981
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-3594001-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594002
    reference: chr 17
allele count: 295
allele frequency: 2.522963241708431e-3
allele num: 116926
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-28dupC
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-28dupC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-28dupC
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 2.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30532
  bin: 2.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 3
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-3594001-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594000
    reference: chr 17
allele count: 1
allele frequency: 8.552417768503155e-6
allele num: 116926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-28delC
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-28delC
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-28delC
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: TG
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-3594002-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594002
    reference: chr 17
allele count: 1
allele frequency: 8.608518990392892e-6
allele num: 116164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-28C>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-28C>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-28C>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

17-3594003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594003
    reference: chr 17
allele count: 1
allele frequency: 8.558126797206627e-6
allele num: 116848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-29C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-29C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-29C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37401
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

17-3594003-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594003
    reference: chr 17
allele count: 4
allele frequency: 3.423250718882651e-5
allele num: 116848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-29C>G
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-29C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-29C>G
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14435
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

17-3594008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594008
    reference: chr 17
allele count: 4
allele frequency: 3.428355931912851e-5
allele num: 116674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-34C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-34C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-34C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35459
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-3594009-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594009
    reference: chr 17
allele count: 1
allele frequency: 8.574417368339821e-6
allele num: 116626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-35A>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-35A>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-35A>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-3594010-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594009
    reference: chr 17
allele count: 1
allele frequency: 8.581481163648846e-6
allele num: 116530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-37delG
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-37delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-37delG
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-3594011-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594011
    reference: chr 17
allele count: 1
allele frequency: 8.585017427585377e-6
allele num: 116482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-37G>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-37G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-37G>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13694
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-3594012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594012
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594012
    reference: chr 17
allele count: 2
allele frequency: 1.717091933102098e-5
allele num: 116476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-38G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-38G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-38G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-3594014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594014
    reference: chr 17
allele count: 1
allele frequency: 8.593132368611007e-6
allele num: 116372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-40G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-40G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-3594015-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594015
    reference: chr 17
allele count: 1
allele frequency: 8.60037497634897e-6
allele num: 116274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-41G>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-41G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-41G>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26428
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-3594017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594017
    reference: chr 17
allele count: 1
allele frequency: 8.615342201392239e-6
allele num: 116072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-43C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-43C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-43C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11976
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

17-3594019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594019
    reference: chr 17
allele count: 1
allele frequency: 8.619352169490942e-6
allele num: 116018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-45A>G
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-45A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-45A>G
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-3594026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594026
    reference: chr 17
allele count: 1
allele frequency: 8.672726011239853e-6
allele num: 115304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.361-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.361-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.596-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.361-52G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.361-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.361-52G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.203-52G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

17-3594203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594203
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594203
    reference: chr 17
allele count: 1
allele frequency: 1.176636701651998e-5
allele num: 84988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+47G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+47G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-229G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+47G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+47G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-229G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+47G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-229G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+47G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+47G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

17-3594204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594204
    reference: chr 17
allele count: 9
allele frequency: 1.059446733372572e-4
allele num: 84950
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+46G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+46G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-230G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+46G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-230G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+46G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+46G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-230G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+46G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+46G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19253
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-3594207-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594207
    reference: chr 17
allele count: 1
allele frequency: 1.168907071887785e-5
allele num: 85550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+43A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+43A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+43A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+43A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+43A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-233A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+43A>G
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-233A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+43A>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-233A>G
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19045
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-3594210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594210
    reference: chr 17
allele count: 3
allele frequency: 3.473508706928492e-5
allele num: 86368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-236G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-236G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+40G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+40G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-236G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+40G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18742
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-3594213-TCCCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594209
    reference: chr 17
allele count: 1
allele frequency: 1.149821777624468e-5
allele num: 86970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+33_360+36delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+33_360+36delTGGG
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+33_360+36delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+33_595+36delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+33_202+36delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+33_360+36delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-243_289-240delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-243_181-240delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+33_360+36delTGGG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-243_289-240delTGGG
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TCCCA
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-3594214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594214
    reference: chr 17
allele count: 1
allele frequency: 1.143040029261825e-5
allele num: 87486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-240G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+36G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+36G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+36G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-240G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+36G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+36G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+36G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+36G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-240G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/17-3594216-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594216
    reference: chr 17
allele count: 3
allele frequency: 3.40514403759279e-5
allele num: 88102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+34G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-242G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+34G>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+34G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-242G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-242G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+34G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+34G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+34G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+34G>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17488
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12351
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-3594218-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594218
    reference: chr 17
allele count: 2
allele frequency: 2.254943964642479e-5
allele num: 88694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+32G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-244G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+32G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-244G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+32G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+32G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-244G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+32G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+32G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+32G>T
  variant of: http://identifiers.org/hgnc/49191
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16793
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-3594220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594220
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594220
    reference: chr 17
allele count: 1
allele frequency: 1.11681929863748e-5
allele num: 89540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-246G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+30G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-246G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-246G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+30G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+30G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+30G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+30G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+30G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+30G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

17-3594221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594221
    reference: chr 17
allele count: 1
allele frequency: 1.111456897701507e-5
allele num: 89972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+29G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+29G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+29G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+29G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-247G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+29G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-247G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-247G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+29G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+29G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-3594224-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594224
    reference: chr 17
allele count: 1
allele frequency: 1.100255259220139e-5
allele num: 90888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-250G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+26G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+26G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-250G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+26G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+26G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+26G>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+26G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+26G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-250G>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

17-3594224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594224
    reference: chr 17
allele count: 3
allele frequency: 3.300765777660417e-5
allele num: 90888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-250G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+26G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-250G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+26G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-250G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+26G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+26G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+26G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+26G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+26G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16361
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-3594225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594225
    reference: chr 17
allele count: 1
allele frequency: 1.092370881761776e-5
allele num: 91544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-251C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-251C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+25C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+25C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+25C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+25C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-251C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+25C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+25C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+25C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-3594230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594230
    reference: chr 17
allele count: 24
allele frequency: 2.521008403361344e-4
allele num: 95200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+20C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+20C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+20C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-256C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+20C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-256C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+20C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-256C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+20C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+20C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22185
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15941
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

17-3594231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594231
    reference: chr 17
allele count: 18
allele frequency: 1.881270903010033e-4
allele num: 95680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-257C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+19C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+19C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+19C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-257C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-257C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+19C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+19C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+19C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+19C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22688
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25553
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-3594233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594233
    reference: chr 17
allele count: 1
allele frequency: 1.030715316429602e-5
allele num: 97020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+17G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+17G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+17G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+17G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+17G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-259G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+17G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+17G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-259G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-259G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24048
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-3594237-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594237
    reference: chr 17
allele count: 9
allele frequency: 9.072763563781528e-5
allele num: 99198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+13G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+13G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-263G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+13G>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-263G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+13G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+13G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-263G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+13G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+13G>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26160
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

17-3594237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594237
    reference: chr 17
allele count: 3
allele frequency: 3.024254521260509e-5
allele num: 99198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+13G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+13G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+13G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+13G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-263G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+13G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-263G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+13G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+13G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-263G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
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: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-3594238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594238
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594238
    reference: chr 17
allele count: 18
allele frequency: 1.801801801801802e-4
allele num: 99900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+12C>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+12C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-264C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+12C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+12C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-264C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+12C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+12C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+12C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-264C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26655
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14386
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-3594239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594239
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594239
    reference: chr 17
allele count: 1
allele frequency: 9.907660603178378e-6
allele num: 100932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+11G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-265G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+11G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+11G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+11G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-265G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+11G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+11G>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+11G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-265G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-3594242-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594242
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594242
    reference: chr 17
allele count: 2
allele frequency: 1.942464210096929e-5
allele num: 102962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+8T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+8T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+8T>A
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+8T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+8T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-268T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-268T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+8T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-268T>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+8T>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
hgvs: c.360+8T>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-3594249-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594249
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594249
    reference: chr 17
allele count: 2
allele frequency: 1.916736947021391e-5
allele num: 104344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360+1G>T
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360+1G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-275G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202+1G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595+1G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-275G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360+1G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-275G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360+1G>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360+1G>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
hgvs: c.360+1G>T
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-3594250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594250
    reference: chr 17
allele count: 12
allele frequency: 1.148303381753459e-4
allele num: 104502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.360G>A
  hgvsp: ENST00000547178.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-276G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.360G>A
  hgvsp: ENST00000225328.5:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-276G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.595G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.360G>A
  hgvsp: ENST00000435558.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.360G>A
  hgvsp: ENST00000552276.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.202G>A
  hgvsp: ENST00000552723.1:c.202G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.360G>A
  hgvsp: ENST00000550383.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-276G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.360G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-3594256-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594255
    reference: chr 17
allele count: 4
allele frequency: 3.827458185019328e-5
allele num: 104508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-283delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-283delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.195delG
  hgvsp: ENSP00000449495.1:p.Cys66LeufsTer30
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.353delG
  hgvsp: ENSP00000225328.5:p.Cys118LeufsTer30
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.353delG
  hgvsp: ENSP00000415370.1:p.Cys118LeufsTer30
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.588delG
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.353delG
  hgvsp: ENSP00000448355.1:p.Cys118LeufsTer30
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.353delG
  hgvsp: ENSP00000455681.1:p.Cys118LeufsTer30
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.353delG
  hgvsp: ENSP00000467707.1:p.Cys118LeufsTer30
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-283delG
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys118LeufsTer30
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: AC
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

17-3594261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594261
    reference: chr 17
allele count: 2
allele frequency: 2.025931928687196e-5
allele num: 98720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.349G>A
  hgvsp: ENSP00000467707.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.349G>A
  hgvsp: ENSP00000455681.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-287G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.349G>A
  hgvsp: ENSP00000225328.5:p.Val117Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-287G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.349G>A
  hgvsp: ENSP00000415370.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.584G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.191G>A
  hgvsp: ENSP00000449495.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.349G>A
  hgvsp: ENSP00000448355.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-287G>A
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20528
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val117Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

17-3594262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594262
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594262
    reference: chr 17
allele count: 19
allele frequency: 1.961756081443853e-4
allele num: 96852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.348C>T
  hgvsp: ENST00000435558.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-288C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-288C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.348C>T
  hgvsp: ENST00000547178.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.348C>T
  hgvsp: ENST00000550383.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.190C>T
  hgvsp: ENST00000552723.1:c.190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.348C>T
  hgvsp: ENST00000225328.5:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.583C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.348C>T
  hgvsp: ENST00000552276.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-288C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17597
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15548
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn116Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-3594269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594269
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594269
    reference: chr 17
allele count: 5
allele frequency: 7.589326371391275e-5
allele num: 65882
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.341G>A
  hgvsp: ENSP00000455681.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.341G>A
  hgvsp: ENSP00000467707.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-295G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-295G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.341G>A
  hgvsp: ENSP00000415370.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.341G>A
  hgvsp: ENSP00000448355.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.341G>A
  hgvsp: ENSP00000225328.5:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-295G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.576G>A
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.183G>A
  hgvsp: ENSP00000449495.1:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11316
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg114Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

17-3594270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594270
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 57856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.340C>T
  hgvsp: ENSP00000467707.1:p.Arg114Trp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-296C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.575C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.340C>T
  hgvsp: ENSP00000415370.1:p.Arg114Trp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.340C>T
  hgvsp: ENSP00000225328.5:p.Arg114Trp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.340C>T
  hgvsp: ENSP00000448355.1:p.Arg114Trp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.340C>T
  hgvsp: ENSP00000455681.1:p.Arg114Trp
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-296C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.182C>T
  hgvsp: ENSP00000449495.1:p.Arg62Trp
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-296C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg114Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

11-75110655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75110655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75110655
    reference: chr 11
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.21+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.63+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.30+34G>A
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

11-75110663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75110663
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75110663
    reference: chr 11
allele count: 2
allele frequency: 1.676024469957262e-5
allele num: 119330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.21+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.30+42G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.63+42G>A
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

11-75110664-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75110664
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75110664
    reference: chr 11
allele count: 1
allele frequency: 8.38321345338095e-6
allele num: 119286
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.21+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.30+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.63+43C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+43C>G
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

11-75110667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75110667
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75110667
    reference: chr 11
allele count: 7
allele frequency: 5.868544600938967e-5
allele num: 119280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.21+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.63+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.30+46G>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+46G>A
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-75110669-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75110669
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75110669
    reference: chr 11
allele count: 3
allele frequency: 2.517707878747189e-5
allele num: 119156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.21+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.30+48C>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.63+48C>A
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

11-75111386-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111386
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111386
    reference: chr 11
allele count: 4
allele frequency: 3.547420138704127e-5
allele num: 112758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+765T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-352T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-352T>C
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

11-75111390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111390
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111390
    reference: chr 11
allele count: 12
allele frequency: 1.064528147898444e-4
allele num: 112726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+769C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-348C>T
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-75111391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111391
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111391
    reference: chr 11
allele count: 4
allele frequency: 3.548301250776191e-5
allele num: 112730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+770C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-347C>T
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-3594273-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594273
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594273
    reference: chr 17
allele count: 1
allele frequency: 1.72188167229148e-5
allele num: 58076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.179C>G
  hgvsp: ENSP00000449495.1:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-299C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.337C>G
  hgvsp: ENSP00000448355.1:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-299C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.337C>G
  hgvsp: ENSP00000225328.5:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.337C>G
  hgvsp: ENSP00000455681.1:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.337C>G
  hgvsp: ENSP00000467707.1:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.572C>G
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.337C>G
  hgvsp: ENSP00000415370.1:p.Gln113Glu
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-299C>G
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln113Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-3594274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3594274
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 3594274
    reference: chr 17
allele count: 1
allele frequency: 1.718449271377509e-5
allele num: 58192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000225328
  ensembl transcript: ENST00000225328
  gene symbol: P2RX5
  hgvsc: ENST00000225328.5:c.336C>T
  hgvsp: ENST00000225328.5:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000449495
  ensembl transcript: ENST00000552723
  gene symbol: P2RX5
  hgvsc: ENST00000552723.1:c.178C>T
  hgvsp: ENST00000552723.1:c.178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000415370
  ensembl transcript: ENST00000435558
  gene symbol: P2RX5
  hgvsc: ENST00000435558.1:c.336C>T
  hgvsp: ENST00000435558.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000448355
  ensembl transcript: ENST00000547178
  gene symbol: P2RX5
  hgvsc: ENST00000547178.1:c.336C>T
  hgvsp: ENST00000547178.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257950
  ensembl protein: ENSP00000455681
  ensembl transcript: ENST00000550383
  gene symbol: P2RX5-TAX1BP3
  hgvsc: ENST00000550383.1:c.336C>T
  hgvsp: ENST00000550383.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49191
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000450006
  ensembl transcript: ENST00000552050
  gene symbol: P2RX5
  hgvsc: ENST00000552050.1:c.181-300C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000447545
  ensembl transcript: ENST00000551178
  gene symbol: P2RX5
  hgvsc: ENST00000551178.1:c.289-300C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000342161
  ensembl transcript: ENST00000345901
  gene symbol: P2RX5
  hgvsc: ENST00000345901.3:c.289-300C>T
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083454
  ensembl protein: ENSP00000467707
  ensembl transcript: ENST00000552276
  gene symbol: P2RX5
  hgvsc: ENST00000552276.1:c.336C>T
  hgvsp: ENST00000552276.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8536
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083454
  ensembl transcript: ENST00000547933
  gene symbol: P2RX5
  hgvsc: ENST00000547933.1:n.571C>T
  variant of: http://identifiers.org/hgnc/8536
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn112Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

11-75111393-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111393
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111393
    reference: chr 11
allele count: 137
allele frequency: 1.214905201922565e-3
allele num: 112766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+772T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-345T>C
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-75111396-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111396
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111396
    reference: chr 11
allele count: 11
allele frequency: 9.754367296266737e-5
allele num: 112770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+775G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-342G>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-342G>C
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-75111404-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111404
    reference: chr 11
allele count: 1
allele frequency: 8.864305215757189e-6
allele num: 112812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+783T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-334T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-334T>C
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

11-75111405-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111405
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111405
    reference: chr 11
allele count: 1
allele frequency: 8.863990923273295e-6
allele num: 112816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+784C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-333C>G
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-333C>G
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

11-75111405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111405
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111405
    reference: chr 11
allele count: 4
allele frequency: 3.545596369309318e-5
allele num: 112816
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+784C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-333C>T
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

11-75111418-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111418
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111418
    reference: chr 11
allele count: 1
allele frequency: 8.86037816093991e-6
allele num: 112862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+797T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-320T>C
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-320T>C
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-75111428-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75111428
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 75111428
    reference: chr 11
allele count: 1
allele frequency: 8.857082122865444e-6
allele num: 112904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432458
  ensembl transcript: ENST00000530721
  gene symbol: RPS3
  hgvsc: ENST00000530721.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529285
  gene symbol: RPS3
  hgvsc: ENST00000529285.1:n.172-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000278572
  ensembl transcript: ENST00000278572
  gene symbol: RPS3
  hgvsc: ENST00000278572.6:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000432542
  ensembl transcript: ENST00000528439
  gene symbol: RPS3
  hgvsc: ENST00000528439.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431834
  ensembl transcript: ENST00000532872
  gene symbol: RPS3
  hgvsc: ENST00000532872.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000431737
  ensembl transcript: ENST00000526248
  gene symbol: RPS3
  hgvsc: ENST00000526248.1:c.22-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433421
  ensembl transcript: ENST00000526608
  gene symbol: RPS3
  hgvsc: ENST00000526608.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000435457
  ensembl transcript: ENST00000527273
  gene symbol: RPS3
  hgvsc: ENST00000527273.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000529173
  gene symbol: RPS3
  hgvsc: ENST00000529173.1:n.64-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433155
  ensembl transcript: ENST00000530164
  gene symbol: RPS3
  hgvsc: ENST00000530164.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000434643
  ensembl transcript: ENST00000531188
  gene symbol: RPS3
  hgvsc: ENST00000531188.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436971
  ensembl transcript: ENST00000527446
  gene symbol: RPS3
  hgvsc: ENST00000527446.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000416745
  ensembl transcript: ENST00000422465
  gene symbol: RPS3
  hgvsc: ENST00000422465.2:c.-218+807T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl transcript: ENST00000534555
  gene symbol: RPS3
  hgvsc: ENST00000534555.1:n.169-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000436335
  ensembl transcript: ENST00000534440
  gene symbol: RPS3
  hgvsc: ENST00000534440.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149273
  ensembl protein: ENSP00000433821
  ensembl transcript: ENST00000524851
  gene symbol: RPS3
  hgvsc: ENST00000524851.1:c.31-310T>A
  variant of: http://identifiers.org/hgnc/10420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.343e0

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.513837e6

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541924939093965e-5
allele num: 64854
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.066e0

FS
type: SiteQuality
SIO_000300: 4.152e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.493e0

QD
type: SiteQuality
SIO_000300: 1.22e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.447e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.507761e6

GenotypeQuality
all individuals: 288
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09607108579213e-5
allele num: 64598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

DP
type: SiteQuality
SIO_000300: 1.496307e6

FS
type: SiteQuality
SIO_000300: 1.5744e1

VQSLOD
type: SiteQuality
SIO_000300: -2.246e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 446
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548802775454574e-5
allele num: 64566
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.176e1

VQSLOD
type: SiteQuality
SIO_000300: -1.539e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.736e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.5152e1

DP
type: SiteQuality
SIO_000300: 1.494624e6

MQRankSum
type: SiteQuality
SIO_000300: -1.147e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.88e-1

GenotypeQuality
all individuals: 1868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.097605550909147e-5
allele num: 64566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.736e0

VQSLOD
type: SiteQuality
SIO_000300: -1.539e0

FS
type: SiteQuality
SIO_000300: 1.5152e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.176e1

MQRankSum
type: SiteQuality
SIO_000300: -1.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.494624e6

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40918
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64238
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.484641e6

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 9.603999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.559e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.451e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.348e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 40807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.670569186698219e-5
allele num: 64232
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.546e0

DP
type: SiteQuality
SIO_000300: 1.483503e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.433e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

GenotypeQuality
all individuals: 523
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 700
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 9.75e1
variant carriers: 30

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

GenotypeQuality
all individuals: 2439
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 872
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 22
allele frequency: 2.295492487479132e-3
allele num: 9584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.234688536032106e-4
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561134007743225e-5
allele num: 64056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.478172e6

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 1795
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1789
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5515
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1028
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1321
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37956
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 978
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3152
bin: 9.75e1
variant carriers: 280

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.25e1
variant carriers: 5

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 142
allele frequency: 1.499788762146177e-2
allele num: 9468
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.239362633514271e-3
allele num: 11422
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.880733944954129e-3
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 108
allele frequency: 1.696139711656249e-3
allele num: 63674
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.21e0

QD
type: SiteQuality
SIO_000300: 1.125e1

DP
type: SiteQuality
SIO_000300: 1.463764e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.035e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

GenotypeQuality
all individuals: 1789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1028
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37956
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.035e1

VQSLOD
type: SiteQuality
SIO_000300: 5.21e0

QD
type: SiteQuality
SIO_000300: 1.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 1.463764e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

GenotypeQuality
all individuals: 5472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.464419e6

QD
type: SiteQuality
SIO_000300: 1.012e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570894467309686e-5
allele num: 63658
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.458974e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

VQSLOD
type: SiteQuality
SIO_000300: -1.7e0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2922
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1036
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63658
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.17998728005088e-4
allele num: 9434
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

DP
type: SiteQuality
SIO_000300: 1.458974e6

QD
type: SiteQuality
SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 1.357e1

VQSLOD
type: SiteQuality
SIO_000300: -1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
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GenotypeQuality
all individuals: 1791
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1050
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.824595547986863e-4
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.28e-1

DP
type: SiteQuality
SIO_000300: 1.439433e6

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.995e0

GenotypeQuality
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574703955656337e-5
allele num: 63504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 1.43282e6

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.175088131609871e-4
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63436
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.143e1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.430733e6

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.071352046282408e-4
allele num: 9334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63412
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

DP
type: SiteQuality
SIO_000300: 1.43115e6

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.140869192892314e-4
allele num: 9342
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.478e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6500
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63362
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South Asian
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allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9308
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.514e0

QD
type: SiteQuality
SIO_000300: 1.036e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.419e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580178244105935e-5
allele num: 63284
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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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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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QD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

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

African
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (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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allele count: 0
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ClippingRankSum
type: SiteQuality
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QD
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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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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South Asian
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allele num: 16426
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 63144
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Latino
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African
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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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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East Asian
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allele num: 8380
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South Asian
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European (Finnish)
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.53e-1

QD
type: SiteQuality
SIO_000300: 9.94e0

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 1.408278e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 14765
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.310959622443629e-4
allele num: 7628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.853e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

DP
type: SiteQuality
SIO_000300: 9.9089e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

QD
type: SiteQuality
SIO_000300: 1.565e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1308
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.4816253361219e-4
allele num: 6694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.291433491175204e-4
allele num: 46460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.95119e5

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

FS
type: SiteQuality
SIO_000300: 9.038e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 691
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5602
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.136021872863978e-5
allele num: 46816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 1.012546e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
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variant carriers: 0

GenotypeQuality
all individuals: 2599
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16474
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 732
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variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13582
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.737839545167404e-4
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

DP
type: SiteQuality
SIO_000300: 1.023647e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
all individuals: 773
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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
all individuals: 555
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GenotypeQuality
all individuals: 2601
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.513826043237808e-4
allele num: 3978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13590
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.465e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

DP
type: SiteQuality
SIO_000300: 1.040534e6

GenotypeQuality
all individuals: 11289
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 401
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GenotypeQuality
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bin: 9.75e1
variant carriers: 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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.085244807740429e-5
allele num: 47956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.046212e6

VQSLOD
type: SiteQuality
SIO_000300: -2.373e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.785e0

MQ
type: SiteQuality
SIO_000300: 6.051e1

QD
type: SiteQuality
SIO_000300: 7.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.203730509946647e-5
allele num: 48358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.7685e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

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

BaseQRankSum
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SIO_000300: -1.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.059329e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2607
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.106776180698152e-5
allele num: 48700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7178
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.46e-2

FS
type: SiteQuality
SIO_000300: 2.181e0

DP
type: SiteQuality
SIO_000300: 1.074847e6

MQ
type: SiteQuality
SIO_000300: 6.047e1

QD
type: SiteQuality
SIO_000300: 1.095e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.369e0

GenotypeQuality
all individuals: 801
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.031446796408402e-5
allele num: 49226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -2.926e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

MQ
type: SiteQuality
SIO_000300: 6.067e1

DP
type: SiteQuality
SIO_000300: 1.092247e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e0

QD
type: SiteQuality
SIO_000300: 4.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

GenotypeQuality
all individuals: 1271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 7.25e1
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: 399
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variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13812
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.020446922859336e-5
allele num: 49494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.100653e6

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.365e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.269e0

GenotypeQuality
all individuals: 4931
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 569
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.255965837729214e-4
allele num: 7962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 1.317e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.126854e6

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
all individuals: 772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.999040230344717e-5
allele num: 50012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.255965837729214e-4
allele num: 7962
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 1.126854e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 2604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 1050
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GenotypeQuality
all individuals: 570
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variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 777
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GenotypeQuality
all individuals: 955
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variant carriers: 0

GenotypeQuality
all individuals: 2614
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 20040
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GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50414
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.176690110521028e-5
allele num: 13934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 1.145423e6

FS
type: SiteQuality
SIO_000300: 7.696e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
SIO_000300: 7.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.557e0

GenotypeQuality
all individuals: 230
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
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variant carriers: 0

GenotypeQuality
all individuals: 123
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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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variant carriers: 24

GenotypeQuality
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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: 839
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.23395853899309e-4
allele num: 8104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.424501424501425e-3
allele num: 702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 4.181873479318735e-4
allele num: 52608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

FS
type: SiteQuality
SIO_000300: 1.504e0

DP
type: SiteQuality
SIO_000300: 1.20439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

GenotypeQuality
all individuals: 15801
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 885
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GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.024803387779795e-4
allele num: 52896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7062
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.42600679281902e-4
allele num: 8244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.213472e6

FS
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 2.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2617
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GenotypeQuality
all individuals: 15417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
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GenotypeQuality
all individuals: 2559
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GenotypeQuality
all individuals: 900
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GenotypeQuality
all individuals: 285
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 160
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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: 415
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variant carriers: 0

GenotypeQuality
all individuals: 27147
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.204529029149603e-4
allele num: 8302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.621e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.609e0

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQ
type: SiteQuality
SIO_000300: 6.049e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.632e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.234516e6

GenotypeQuality
all individuals: 14660
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14394
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.043357291908185e-3
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54924
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.181e1

DP
type: SiteQuality
SIO_000300: 1.271283e6

FS
type: SiteQuality
SIO_000300: 1.0151e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.885e0

VQSLOD
type: SiteQuality
SIO_000300: -4.43e-1

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14660
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.462093074065982e-5
allele num: 54924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 1.0151e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.43e-1

DP
type: SiteQuality
SIO_000300: 1.271283e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.885e0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
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variant carriers: 0

GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
all individuals: 1658
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variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 9.75e1
variant carriers: 19

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.341561577676415e-4
allele num: 7454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.145475372279496e-4
allele num: 8730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.934812760055478e-5
allele num: 14420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.709733362237156e-4
allele num: 55356
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.285604e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 539
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variant carriers: 0

GenotypeQuality
all individuals: 30815
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variant carriers: 0

GenotypeQuality
all individuals: 3188
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variant carriers: 0

GenotypeQuality
all individuals: 742
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variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
all individuals: 258
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variant carriers: 0

GenotypeQuality
all individuals: 14353
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variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.788716774585912e-5
allele num: 55906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.364e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.264e0

DP
type: SiteQuality
SIO_000300: 1.295871e6

FS
type: SiteQuality
SIO_000300: 5.035e0

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 6.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.035e0

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

GenotypeQuality
all individuals: 2620
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
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variant carriers: 0

GenotypeQuality
all individuals: 531
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variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 907
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57068
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.365560562610952e-4
allele num: 14646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.807e0

VQSLOD
type: SiteQuality
SIO_000300: -8.027e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 1.326286e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.75e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.151000215100022e-4
allele num: 9298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5090
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

DP
type: SiteQuality
SIO_000300: 1.354388e6

QD
type: SiteQuality
SIO_000300: 8.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e0

GenotypeQuality
all individuals: 1000
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
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GenotypeQuality
all individuals: 2630
bin: 9.75e1
variant carriers: 12

GenotypeQuality
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GenotypeQuality
all individuals: 49
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 158
bin: 4.75e1
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.29065565307176e-3
allele num: 7748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.453873519151728e-5
allele num: 57906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.527e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.358346e6

FS
type: SiteQuality
SIO_000300: 1.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.698e0

GenotypeQuality
all individuals: 874
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variant carriers: 0

GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1550
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GenotypeQuality
all individuals: 21162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 286
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 23275
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GenotypeQuality
all individuals: 2621
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 836
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 288
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.712967986977754e-4
allele num: 14744
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

VQSLOD
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SIO_000300: 2.68e0

QD
type: SiteQuality
SIO_000300: 3.256e1

ClippingRankSum
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SIO_000300: -1.239e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 1.436597e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11731843575419e-4
allele num: 8950
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.00770847932726e-5
allele num: 14270
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54608
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
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MQRankSum
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SIO_000300: -2.96e-1

MQ
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SIO_000300: 5.973e1

DP
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SIO_000300: 1.589368e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 1.53e0

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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GenotypeQuality
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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: 19

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.806781183338947e-4
allele num: 53442
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.065140596297866e-5
allele num: 14154
num of homozygotes: 0

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

East Asian
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allele count: 3
allele frequency: 4.269854824935952e-4
allele num: 7026
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.138e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

FS
type: SiteQuality
SIO_000300: 2.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
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SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.614674e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.857632737040636e-5
allele num: 34994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2674
num of homozygotes: 0

African
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: 3588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.142204454597373e-3
allele num: 3502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.032e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

DP
type: SiteQuality
SIO_000300: 1.876447e6

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.448e1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

GenotypeQuality
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bin: 6.75e1
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: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31012
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2502
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
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SIO_000300: 1.922005e6

InbreedingCoeff
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SIO_000300: -1.45e-2

BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.65e-1

VQSLOD
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MQ
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SIO_000300: 5.94e1

QD
type: SiteQuality
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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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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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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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SIO_000300: -7.0e-4

GenotypeDepth
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.528210770829513e-5
allele num: 65436
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
allele num: 11538
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European (Finnish)
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South Asian
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QD
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.208095356344674e-5
allele num: 16108
num of homozygotes: 0

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

Other
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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MQ
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QD
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MQRankSum
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SIO_000300: -6.900000000000001e-2

InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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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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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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Other
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num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.947887879984208e-4
allele num: 10132
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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.585753592173647e-5
allele num: 65420
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.452e0

VQSLOD
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FS
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DP
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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MQ
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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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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

African
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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

Other
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allele num: 890
num of homozygotes: 0

Latino
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allele frequency: 1.73370319001387e-4
allele num: 11536
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 count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ClippingRankSum
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SIO_000300: 9.59e-1

VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 6.878e0

MQRankSum
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SIO_000300: 4.84e-1

BaseQRankSum
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SIO_000300: 1.86e0

DP
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SIO_000300: 2.335216e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 9.449999999999999e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8164
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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num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.475860361475613e-4
allele num: 16156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61454
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
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MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.1558e1

MQRankSum
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SIO_000300: -3.23e-1

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

African
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allele num: 8164
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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Other
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MQRankSum
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DP
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QD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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Other
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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South Asian
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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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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Latino
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allele num: 3142
num of homozygotes: 0

South Asian
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European (Finnish)
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African
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Other
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East Asian
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European (Non-Finnish)
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 271
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GenotypeQuality
all individuals: 1944
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.170577045022194e-4
allele num: 3154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.914e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 1.931273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
SIO_000300: 8.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.829e1

GenotypeDepth
all individuals: 4747
bin: 5.25e1
variant carriers: 1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 104

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
all individuals: 3027
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variant carriers: 7

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 137

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 126
allele frequency: 2.050113895216401e-3
allele num: 61460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.367365542388332e-3
allele num: 6582
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.375296912114014e-3
allele num: 842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.68965e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.472e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 5872
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 359
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variant carriers: 0

GenotypeDepth
all individuals: 1981
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 772
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 528
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2948
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variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.627021574306075e-4
allele num: 61462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.224889759921607e-4
allele num: 8164
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.685234e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.12e0

FS
type: SiteQuality
SIO_000300: 8.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

GenotypeDepth
all individuals: 4704
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1589
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variant carriers: 0

GenotypeDepth
all individuals: 1642
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variant carriers: 0

GenotypeDepth
all individuals: 2195
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 774
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 48036
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 526
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GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61482
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.218323586744639e-4
allele num: 8208
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: 11352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 3.688309e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.642e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

GenotypeDepth
all individuals: 5866
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626545217957059e-5
allele num: 61480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
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SIO_000300: 3.688744e6

BaseQRankSum
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SIO_000300: -4.207e0

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 2.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2428
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 48040
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.470966147763776e-4
allele num: 16188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 3.688744e6

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

GenotypeDepth
all individuals: 406
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variant carriers: 0

GenotypeDepth
all individuals: 89
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variant carriers: 0

GenotypeDepth
all individuals: 4754
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GenotypeDepth
all individuals: 2247
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GenotypeDepth
all individuals: 2061
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GenotypeDepth
all individuals: 4704
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GenotypeDepth
all individuals: 1638
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variant carriers: 0

GenotypeDepth
all individuals: 2363
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3841
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5603
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3028
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625910509885536e-5
allele num: 61504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
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: 11352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

DP
type: SiteQuality
SIO_000300: 3.691806e6

VQSLOD
type: SiteQuality
SIO_000300: -3.019e0

FS
type: SiteQuality
SIO_000300: 8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

GenotypeDepth
all individuals: 4754
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2084
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5357
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 1.25e1
variant carriers: 0