19-875474-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875474
    reference: chr 19
allele count: 1
allele frequency: 1.264254469139548e-5
allele num: 79098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-130A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-20A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-20A>G
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-875479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875479
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875479
    reference: chr 19
allele count: 1
allele frequency: 1.382399292211562e-5
allele num: 72338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-135G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-25G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-25G>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16793
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-875484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875484
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875484
    reference: chr 19
allele count: 18
allele frequency: 2.65737569387032e-4
allele num: 67736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-140C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-30C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-30C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23327
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17732
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

19-875485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875485
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875485
    reference: chr 19
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-141C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-31C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-31C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-875485-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875485
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875485
    reference: chr 19
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-141C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-31C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-31C>G
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-875486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875486
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875486
    reference: chr 19
allele count: 1
allele frequency: 1.529379377848469e-5
allele num: 65386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-142C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-32C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-32C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-875488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875488
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875488
    reference: chr 19
allele count: 9
allele frequency: 1.448062813746943e-4
allele num: 62152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-144G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-34G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-34G>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21923
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18833
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10003
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-875489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875489
    reference: chr 19
allele count: 2
allele frequency: 3.307206402751596e-5
allele num: 60474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-145C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-35C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-35C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19201
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21498
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10387
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-875489-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875489
    reference: chr 19
allele count: 1
allele frequency: 1.653603201375798e-5
allele num: 60474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-145C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-35C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-35C>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-875490-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875490
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 56766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-146C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-36C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-36C>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20559
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-875495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875495
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875495
    reference: chr 19
allele count: 1
allele frequency: 1.977222397975324e-5
allele num: 50576
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-151C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-41C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-41C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19477
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-875496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875496
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875496
    reference: chr 19
allele count: 1
allele frequency: 2.010373527401391e-5
allele num: 49742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-152T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-42T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-42T>C
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17189
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

19-875499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875499
    reference: chr 19
allele count: 5
allele frequency: 1.062473438164046e-4
allele num: 47060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-155G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-45G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-45G>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24428
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

19-875500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875500
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875500
    reference: chr 19
allele count: 6
allele frequency: 1.372244076479736e-4
allele num: 43724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-156C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-46C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-46C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25362
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

19-875503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875503
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875503
    reference: chr 19
allele count: 1
allele frequency: 2.254384778393976e-5
allele num: 44358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-159G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-49G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-49G>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14952
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-875504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875504
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875504
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 44060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-50C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-160C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-50C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25697
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

19-875506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 875506
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 875506
    reference: chr 19
allele count: 1
allele frequency: 2.285087518851972e-5
allele num: 43762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1561-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.822-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1561-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-162G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1561-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1129-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1561-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1561-52G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1561-52G>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25810
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-876924-GCCACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876924
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876919
    reference: chr 19
allele count: 1
allele frequency: 1.270518879910556e-5
allele num: 78708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+45_1560+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+45_1560+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+45_1560+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+45_1560+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+45_821+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+45_1560+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+45_1128+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1585_46-1581delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1475_1354-1471delTGTGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+45_1560+49delTGTGG
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: GCCACA
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-876925-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876925
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876925
    reference: chr 19
allele count: 1
allele frequency: 1.268037838249093e-5
allele num: 78862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+49G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+49G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+49G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+49G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1581G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+49G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+49G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+49G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1471G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+49G>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-876926-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876926
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876926
    reference: chr 19
allele count: 1
allele frequency: 1.26864914239318e-5
allele num: 78824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1472G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+48G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+48G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+48G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+48G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+48G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+48G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+48G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1582G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+48G>C
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-876928-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876928
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876927
    reference: chr 19
allele count: 25
allele frequency: 3.658072634690235e-4
allele num: 68342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+45delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1585delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+45delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+45delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+45delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1475delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+45delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+45delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+45delT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+45delT
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CA
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

19-876928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876928
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876928
    reference: chr 19
allele count: 1
allele frequency: 1.463229053876094e-5
allele num: 68342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1474G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+46G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+46G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+46G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1584G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+46G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+46G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+46G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+46G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+46G>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

19-876929-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876929
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876929
    reference: chr 19
allele count: 111
allele frequency: 2.185125398637742e-3
allele num: 50798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+45T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+45T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+45T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+45T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+45T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+45T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1585T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1475T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+45T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+45T>C
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 3
num of homozygotes: 2
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-876929-AGGGCCCCCACCTGCCACGGGGCCCCACCTGCCAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876929
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876895
    reference: chr 19
allele count: 1
allele frequency: 1.968581440214182e-5
allele num: 50798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17476
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: AGGGCCCCCACCTGCCACGGGGCCCCACCTGCCAC
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-876929-AGGGCCCCCACCTGCCACGGGGCCCCACCTGCCACG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876929
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876894
    reference: chr 19
allele count: 2
allele frequency: 3.937162880428363e-5
allele num: 50798
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17476
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6230
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 338
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 2.544529262086514e-4
  allele num: 3930
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.078438615933998e-5
  allele num: 32484
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
reference allele: AGGGCCCCCACCTGCCACGGGGCCCCACCTGCCACG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-876930-G-GGGCCCCCACCTGCCACAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876930
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876948
    reference: chr 19
allele count: 1
allele frequency: 1.419527013599069e-5
allele num: 70446
alternate allele: GGGCCCCCACCTGCCACAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6448
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-876932-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876932
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876931
    reference: chr 19
allele count: 3
allele frequency: 4.758581308292621e-5
allele num: 63044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+41delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+41delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1479delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+41delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+41delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+41delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1589delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+41delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+41delG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+41delG
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15195
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: GC
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-876932-GCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876932
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876929
    reference: chr 19
allele count: 3
allele frequency: 4.758581308292621e-5
allele num: 63044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+39_1560+41delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+39_1560+41delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+39_821+41delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+39_1560+41delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+39_1560+41delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1481_1354-1479delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+39_1560+41delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1591_46-1589delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+39_1560+41delGGG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+39_1128+41delGGG
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12145
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: GCCC
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

19-876933-C-CCCCCACCTGCCACGGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876950
    reference: chr 19
allele count: 10398
allele frequency: 1.487255771376262e-1
allele num: 69914
alternate allele: CCCCCACCTGCCACGGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 7.5e0
  variant carriers: 1232
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 1.75e1
  variant carriers: 3062
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 1.25e1
  variant carriers: 3539
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 2.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.25e1
  variant carriers: 1520
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.5e0
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 246
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 2.25e1
  variant carriers: 316
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.75e1
  variant carriers: 338
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 315
num of homozygotes: 1755
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

19-876933-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876933
    reference: chr 19
allele count: 27
allele frequency: 3.861887461738708e-4
allele num: 69914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+41G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+41G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1479G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+41G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+41G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+41G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1589G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+41G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+41G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+41G>C
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 2.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-876933-CCCCCACCTGCCACGGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876916
    reference: chr 19
allele count: 39
allele frequency: 5.578281889178133e-4
allele num: 69914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9466
  bin: 2.5e0
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: CCCCCACCTGCCACGGGG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-876933-C-CCCCCACCTGCCACAGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876950
    reference: chr 19
allele count: 2
allele frequency: 2.860657379065709e-5
allele num: 69914
alternate allele: CCCCCACCTGCCACAGGG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9466
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-876935-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876935
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876935
    reference: chr 19
allele count: 1
allele frequency: 1.138952164009112e-5
allele num: 87800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+39G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1481G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+39G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+39G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+39G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+39G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1591G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+39G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+39G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+39G>C
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9931
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-876935-CCCACCTGCCACGGGGCCCCACCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876935
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876911
    reference: chr 19
allele count: 1
allele frequency: 1.138952164009112e-5
allele num: 87800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: CCCACCTGCCACGGGGCCCCACCTG
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-876939-C-CCTGCCACGGGGCCCCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876939
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876956
    reference: chr 19
allele count: 1
allele frequency: 1.123873316999708e-5
allele num: 88978
alternate allele: CCTGCCACGGGGCCCCAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-876945-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876945
    reference: chr 19
allele count: 1
allele frequency: 1.108205150937542e-5
allele num: 90236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1601T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+29T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1491T>C
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18990
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-876946-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876946
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876947
    reference: chr 19
allele count: 119
allele frequency: 1.375531718143148e-3
allele num: 86512
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+27_1560+28insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1603_46-1602insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+27_1560+28insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+27_1560+28insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1493_1354-1492insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+27_1560+28insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+27_1560+28insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+27_1128+28insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+27_1560+28insT
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+27_821+28insT
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 19020
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10638
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 2.5e0
  variant carriers: 6
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-876946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876946
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876946
    reference: chr 19
allele count: 3
allele frequency: 3.467727020528944e-5
allele num: 86512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1492G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+28G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1602G>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19020
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-876947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876947
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876947
    reference: chr 19
allele count: 24
allele frequency: 2.815315315315315e-4
allele num: 85248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+27C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+27C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1493C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+27C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1603C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+27C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+27C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+27C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+27C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+27C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20489
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10177
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.25e1
  variant carriers: 4
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-876947-G-GGGGCCCCACCTGCCACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876947
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876964
    reference: chr 19
allele count: 1
allele frequency: 1.173048048048048e-5
allele num: 85248
alternate allele: GGGGCCCCACCTGCCACA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-876949-G-GCCCCCACCTGCCACGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876949
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876966
    reference: chr 19
allele count: 1
allele frequency: 1.07148979941711e-5
allele num: 93328
alternate allele: GCCCCCACCTGCCACGGA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

17-61908673-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908674
    reference: chr 17
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.675-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.847-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1281-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.446-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*68-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2186-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*177-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*642-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.847-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.847-11dupT
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.871-11dupT
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

17-61908683-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908683
    reference: chr 17
allele count: 2
allele frequency: 1.651227687785869e-5
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*177-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.847-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*642-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.446-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.847-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.847-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*68-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.675-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1281-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.871-4T>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2186-4T>A
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.871-4T>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-61908701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908701
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908701
    reference: chr 17
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.861T>C
  hgvsp: ENST00000375812.4:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1295T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.885T>C
  hgvsp: ENST00000310144.6:c.885T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.3T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.689T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.861T>C
  hgvsp: ENST00000581882.1:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2200T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.861T>C
  hgvsp: ENST00000580864.1:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*656T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*191T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*82T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.460T>C
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr295Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

17-61908724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908724
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908724
    reference: chr 17
allele count: 2
allele frequency: 1.650546330835507e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.884C>T
  hgvsp: ENSP00000463938.1:p.Ser295Leu
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.26C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.908C>T
  hgvsp: ENSP00000310572.6:p.Ser303Leu
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.884C>T
  hgvsp: ENSP00000364970.4:p.Ser295Leu
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2223C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.884C>T
  hgvsp: ENSP00000462495.1:p.Ser295Leu
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.712C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*105C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*679C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1318C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.483C>T
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser303Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-61908725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908725
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908725
    reference: chr 17
allele count: 3
allele frequency: 2.475737769855417e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.713G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.27G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.484G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2224G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.885G>A
  hgvsp: ENST00000581882.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.909G>A
  hgvsp: ENST00000310144.6:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*680G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.885G>A
  hgvsp: ENST00000580864.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.885G>A
  hgvsp: ENST00000375812.4:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1319G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser303Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-61908736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908736
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908736
    reference: chr 17
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.724G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.896G>A
  hgvsp: ENSP00000462495.1:p.Arg299His
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.896G>A
  hgvsp: ENSP00000364970.4:p.Arg299His
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*117G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.920G>A
  hgvsp: ENSP00000310572.6:p.Arg307His
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.495G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2235G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.896G>A
  hgvsp: ENSP00000463938.1:p.Arg299His
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*691G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1330G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg307His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-61908770-A-ACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908772
    reference: chr 17
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: ACC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*730_*731dupCC
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.534_535dupCC
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.935_936dupCC
  hgvsp: ENSP00000463938.1:p.Asn313ProfsTer10
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.935_936dupCC
  hgvsp: ENSP00000462495.1:p.Asn313ProfsTer10
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2274_2275dupCC
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*156_*157dupCC
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.959_960dupCC
  hgvsp: ENSP00000310572.6:p.Asn321ProfsTer10
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.935_936dupCC
  hgvsp: ENSP00000364970.4:p.Asn313ProfsTer10
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.77_78dupCC
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1369_1370dupCC
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.763_764dupCC
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*265_*266dupCC
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn321ProfsTer10
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

19-876950-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876950
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876950
    reference: chr 19
allele count: 145
allele frequency: 1.634576362898498e-3
allele num: 88708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+24C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+24C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+24C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+24C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+24C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1606C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+24C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+24C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1496C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+24C>G
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22126
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9516
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.75e1
  variant carriers: 2
num of homozygotes: 1
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-876950-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876950
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876951
    reference: chr 19
allele count: 5
allele frequency: 5.636470216891374e-5
allele num: 88708
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1560+23dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.1128+23dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1560+23dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.821+23dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1560+23dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1560+23dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-1607dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1560+23dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1354-1497dupG
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1560+23dupG
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9516
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

19-876950-G-GCCCCACCTGCCACGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 876950
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 876967
    reference: chr 19
allele count: 12
allele frequency: 1.35275285205393e-4
allele num: 88708
alternate allele: GCCCCACCTGCCACGGGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9516
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22126
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1560+7_1560+23dupGCCCGTGGCAGGTGGGG
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-61908773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908773
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908773
    reference: chr 17
allele count: 6
allele frequency: 4.956301937914058e-5
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*154C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.75C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*728C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.957C>T
  hgvsp: ENST00000310144.6:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2272C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.933C>T
  hgvsp: ENST00000375812.4:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.532C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.933C>T
  hgvsp: ENST00000581882.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.933C>T
  hgvsp: ENST00000580864.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1367C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*263C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.761C>T
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro319Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-61908778-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908778
    reference: chr 17
allele count: 2
allele frequency: 1.652701340340787e-5
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*268A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.80A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.938A>G
  hgvsp: ENSP00000463938.1:p.Asn313Ser
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*159A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1372A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.938A>G
  hgvsp: ENSP00000462495.1:p.Asn313Ser
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.537A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2277A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.962A>G
  hgvsp: ENSP00000310572.6:p.Asn321Ser
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*733A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.766A>G
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.938A>G
  hgvsp: ENSP00000364970.4:p.Asn313Ser
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn321Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS

17-61908782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908782
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908782
    reference: chr 17
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.84G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.942G>A
  hgvsp: ENST00000375812.4:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.942G>A
  hgvsp: ENST00000580864.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579031
  gene symbol: PSMC5
  hgvsc: ENST00000579031.1:n.770G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.541G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.942G>A
  hgvsp: ENST00000581882.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.966G>A
  hgvsp: ENST00000310144.6:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*737G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1376G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464646
  ensembl transcript: ENST00000584536
  gene symbol: PSMC5
  hgvsc: ENST00000584536.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2281G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu322Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-61908786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908786
    reference: chr 17
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.88G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+1G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+1G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
hgvs: c.969+1G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-61908789-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908789
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908789
    reference: chr 17
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+4T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.91T>C
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7471
  bin: 6.75e1
  variant carriers: 0
hgvs: c.969+4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-61908790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908790
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908790
    reference: chr 17
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.92G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+5G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+5G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 7.75e1
  variant carriers: 0
hgvs: c.969+5G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-61908800-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908800
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908798
    reference: chr 17
allele count: 2
allele frequency: 1.655903295247558e-5
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.105_106delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+18_945+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+18_*166+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+18_969+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+18_1379+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+18_945+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+18_*740+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+18_2284+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+18_945+19delTG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+18_544+19delTG
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: CTG
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-61908801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908801
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908801
    reference: chr 17
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.103T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+16T>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+16T>C
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-61908804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908804
    reference: chr 17
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+19G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.106G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+19G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-61908804-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908804
    reference: chr 17
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.106G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+19G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+19G>C
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16894
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-61908813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908813
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908813
    reference: chr 17
allele count: 12
allele frequency: 9.963632740497185e-5
allele num: 120438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+28C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.115C>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+28C>T
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

17-61908817-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908817
    reference: chr 17
allele count: 2
allele frequency: 1.662123529020677e-5
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.119G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+32G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+32G>T
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-61908821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908821
    reference: chr 17
allele count: 3
allele frequency: 2.493433957245919e-5
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.123G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+36G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+36G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-61908822-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908822
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908821
    reference: chr 17
allele count: 2
allele frequency: 1.662482751741451e-5
allele num: 120302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.946-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.946-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1380-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*741-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.129delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.970-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2285-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*167-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.545-39delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.946-39delG
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: TG
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

17-61908823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908823
    reference: chr 17
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.125G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+38G>A
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+38G>A
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

17-61908823-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908823
    reference: chr 17
allele count: 2
allele frequency: 1.662648599218555e-5
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.125G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+38G>T
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+38G>T
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

17-61908824-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908824
    reference: chr 17
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*740+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.969+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.126G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.945+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*166+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.945+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1379+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.945+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.544+39G>C
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2284+39G>C
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-61908828-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61908828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 61908827
    reference: chr 17
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463938
  ensembl transcript: ENST00000581882
  gene symbol: PSMC5
  hgvsc: ENST00000581882.1:c.946-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000463107
  ensembl transcript: ENST00000585242
  gene symbol: PSMC5
  hgvsc: ENST00000585242.1:c.*741-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000310572
  ensembl transcript: ENST00000310144
  gene symbol: PSMC5
  hgvsc: ENST00000310144.6:c.970-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000364970
  ensembl transcript: ENST00000375812
  gene symbol: PSMC5
  hgvsc: ENST00000375812.4:c.946-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000578570
  gene symbol: PSMC5
  hgvsc: ENST00000578570.1:n.1380-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000579147
  gene symbol: PSMC5
  hgvsc: ENST00000579147.1:n.2285-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000584657
  gene symbol: PSMC5
  hgvsc: ENST00000584657.1:n.134delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000464347
  ensembl transcript: ENST00000584880
  gene symbol: PSMC5
  hgvsc: ENST00000584880.1:c.*167-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl transcript: ENST00000580063
  gene symbol: PSMC5
  hgvsc: ENST00000580063.1:n.545-34delG
  variant of: http://identifiers.org/hgnc/9552
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087191
  ensembl protein: ENSP00000462495
  ensembl transcript: ENST00000580864
  gene symbol: PSMC5
  hgvsc: ENST00000580864.1:c.946-34delG
  variant of: http://identifiers.org/hgnc/9552
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TG

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4630
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9534
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 270
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.285609800694825e-5
allele num: 43752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 7.87516e5

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 70
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6873
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4115
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.602050624799744e-4
allele num: 6242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

VQSLOD
type: SiteQuality
SIO_000300: -2.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 8.433999999999999e0

DP
type: SiteQuality
SIO_000300: 7.18053e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 8599
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.805125467164976e-4
allele num: 37460
num of homozygotes: 0

DP
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FS
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VQSLOD
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BaseQRankSum
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SIO_000300: -8.25e-1

ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 2.89e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele frequency: 2.757859900717044e-5
allele num: 36260
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36160
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 8.467400508044031e-5
allele num: 11810
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

QD
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 1.299183370452858e-3
allele num: 5388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.909344815547539e-5
allele num: 34372
num of homozygotes: 0

Other
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 2.267573696145125e-4
allele num: 4410
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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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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Latino
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num of homozygotes: 0

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

African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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South Asian
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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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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European (Finnish)
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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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Latino
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allele frequency: 0.0e0
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East Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.578329635726043e-5
allele num: 27946
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 27480
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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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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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 2.476473501733531e-4
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European (Non-Finnish)
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allele frequency: 1.536452331566413e-4
allele num: 26034
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East Asian
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MQ
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SIO_000300: 6.0e1

VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
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allele num: 24144
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African
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 3.115264797507788e-4
allele num: 9630
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Other
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South Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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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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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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Other
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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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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African
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European (Finnish)
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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MQRankSum
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QD
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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European (Finnish)
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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variant carriers: 1

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

Other
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allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.267882251553499e-5
allele num: 44094
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.174e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

FS
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.871e0

MQRankSum
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SIO_000300: -1.331e0

DP
type: SiteQuality
SIO_000300: 8.07589e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

MQ
type: SiteQuality
SIO_000300: 6.153e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.275830678197542e-5
allele num: 43940
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3536
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.117e0

MQ
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SIO_000300: 6.0e1

FS
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.329e0

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15

GenotypeQuality
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variant carriers: 1

Latino
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allele count: 1
allele frequency: 1.519295047098146e-4
allele num: 6582
num of homozygotes: 0

African
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allele frequency: 1.945525291828794e-4
allele num: 5140
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.1001100110011e-3
allele num: 9090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.98670914430783e-4
allele num: 40178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.644103648863035e-4
allele num: 3782
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.02e0

DP
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MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
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SIO_000300: 3.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.056e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.06e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

Latino
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: 452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.1001100110011e-4
allele num: 9090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.056e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.06e-2

QD
type: SiteQuality
SIO_000300: 4.02e0

DP
type: SiteQuality
SIO_000300: 8.26023e5

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
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variant carriers: 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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African
type: Population
allele count: 16
allele frequency: 3.933136676499509e-3
allele num: 4068
num of homozygotes: 0

East Asian
type: Population
allele count: 37
allele frequency: 2.811550151975684e-2
allele num: 1316
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 1.272264631043257e-3
allele num: 3930
num of homozygotes: 0

South Asian
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allele count: 15
allele frequency: 2.407704654895666e-3
allele num: 6230
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 4.111842105263158e-4
allele num: 2432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 1.139022287895579e-3
allele num: 32484
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.236e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-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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South Asian
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allele count: 1
allele frequency: 1.605136436597111e-4
allele num: 6230
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2432
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: 32484
num of homozygotes: 0

African
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Other
type: Population
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allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 41068
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.892505677517033e-4
allele num: 5284
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South Asian
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Other
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East Asian
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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SIO_000300: 5.581e1

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1412
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GenotypeQuality
all individuals: 2153
bin: 4.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
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num of homozygotes: 0

African
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allele count: 2
allele frequency: 4.242681374628765e-4
allele num: 4714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37068
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.78756e5

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ClippingRankSum
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SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

GenotypeQuality
all individuals: 7873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5069
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37068
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.901915264074289e-4
allele num: 10338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.78756e5

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 504
bin: 5.75e1
variant carriers: 114

GenotypeQuality
all individuals: 2325
bin: 4.75e1
variant carriers: 188

GenotypeQuality
all individuals: 1308
bin: 1.25e1
variant carriers: 153

GenotypeQuality
all individuals: 4640
bin: 3.25e1
variant carriers: 297

GenotypeQuality
all individuals: 4001
bin: 3.75e1
variant carriers: 286

GenotypeQuality
all individuals: 7243
bin: 9.75e1
variant carriers: 7129

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 68

GenotypeQuality
all individuals: 9466
bin: 2.5e0
variant carriers: 59

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 64

GenotypeQuality
all individuals: 1108
bin: 5.25e1
variant carriers: 162

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 49

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 60

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 68

GenotypeQuality
all individuals: 7004
bin: 6.25e1
variant carriers: 70

South Asian
type: Population
allele count: 2298
allele frequency: 2.189405487804878e-1
allele num: 10496
num of homozygotes: 418

East Asian
type: Population
allele count: 2322
allele frequency: 5.121305690339656e-1
allele num: 4534
num of homozygotes: 694

Other
type: Population
allele count: 68
allele frequency: 1.511111111111111e-1
allele num: 450
num of homozygotes: 13

Latino
type: Population
allele count: 1348
allele frequency: 2.131562302340291e-1
allele num: 6324
num of homozygotes: 221

European (Finnish)
type: Population
allele count: 310
allele frequency: 1.021080368906456e-1
allele num: 3036
num of homozygotes: 43

European (Non-Finnish)
type: Population
allele count: 3682
allele frequency: 9.188919391065635e-2
allele num: 40070
num of homozygotes: 336

African
type: Population
allele count: 370
allele frequency: 7.394084732214229e-2
allele num: 5004
num of homozygotes: 30

FS
type: SiteQuality
SIO_000300: 7.115e0

DP
type: SiteQuality
SIO_000300: 8.397e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 4.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.94e-1

MQ
type: SiteQuality
SIO_000300: 6.028e1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

GenotypeQuality
all individuals: 2325
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7767
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1308
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7004
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1108
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4001
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9466
bin: 2.5e0
variant carriers: 35

GenotypeQuality
all individuals: 1925
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7243
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.998401278976818e-4
allele num: 5004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 9.527439024390244e-4
allele num: 10496
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.411116012351125e-4
allele num: 4534
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.581277672359266e-4
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 3.24432243573746e-4
allele num: 40070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.028e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 7.115e0

DP
type: SiteQuality
SIO_000300: 8.397e5

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.94e-1

QD
type: SiteQuality
SIO_000300: 4.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 1441
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7243
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 2.1982414068745e-3
allele num: 5004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 6.587615283267457e-4
allele num: 3036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 5.490391814324931e-4
allele num: 40070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.810975609756098e-4
allele num: 10496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.94e-1

FS
type: SiteQuality
SIO_000300: 7.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 8.397e5

MQ
type: SiteQuality
SIO_000300: 6.028e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 4.1e0

GenotypeQuality
all individuals: 7767
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7243
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.991265285749938e-5
allele num: 40070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.1e0

MQ
type: SiteQuality
SIO_000300: 6.028e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 8.397e5

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

FS
type: SiteQuality
SIO_000300: 7.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
all individuals: 1177
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1362
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.411631846414455e-4
allele num: 7084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

DP
type: SiteQuality
SIO_000300: 9.07259e5

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 4.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

GenotypeQuality
all individuals: 748
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5572
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.243227582210633e-5
allele num: 13806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

QD
type: SiteQuality
SIO_000300: 4.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 9.07259e5

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 516
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 9.35702e5

VQSLOD
type: SiteQuality
SIO_000300: -3.057e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 1.6805e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 2.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

GenotypeQuality
all individuals: 10938
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.25e1
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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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48674
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.087192868014786e-4
allele num: 9198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 5.871e1

VQSLOD
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SIO_000300: -2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 9.8655e5

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 80

GenotypeQuality
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Other
type: Population
allele count: 1
allele frequency: 1.683501683501683e-3
allele num: 594
num of homozygotes: 0

South Asian
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allele count: 12
allele frequency: 8.739985433357611e-4
allele num: 13730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 88
allele frequency: 1.915708812260536e-3
allele num: 45936
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.341501447983961e-4
allele num: 8978
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 2.500833611203734e-3
allele num: 5998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4042
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 6.793e0

BaseQRankSum
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SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: -2.78e-1

ClippingRankSum
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SIO_000300: 1.3e0

MQ
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SIO_000300: 5.946e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

DP
type: SiteQuality
SIO_000300: 1.015585e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.334444814938313e-4
allele num: 5998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.176941832114246e-5
allele num: 45936
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

DP
type: SiteQuality
SIO_000300: 1.015585e6

FS
type: SiteQuality
SIO_000300: 6.793e0

ClippingRankSum
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SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 4.74e0

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.937720329024677e-4
allele num: 13616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.688618709895306e-4
allele num: 5922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.994496471528117e-4
allele num: 45062
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.51004016064257e-4
allele num: 3984
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.044339e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 1.143e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

QD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.404e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13616
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.389660922734853e-4
allele num: 7196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45062
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3984
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
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FS
type: SiteQuality
SIO_000300: 1.143e1

DP
type: SiteQuality
SIO_000300: 1.044339e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

QD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
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SIO_000300: -1.404e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
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SIO_000300: -2.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 1.061571125265393e-4
allele num: 9420
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50616
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14328
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4456
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East Asian
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 3.4e-1

QD
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ReadPosRankSum
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FS
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MQRankSum
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DP
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SIO_000300: 1.061489e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

East Asian
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Other
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South Asian
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 908
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Latino
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

DP
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SIO_000300: 2.09962e6

ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 1.22e0

MQRankSum
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SIO_000300: 2.1e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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: 9.25e1
variant carriers: 0

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

South Asian
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allele 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

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: 10328
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

MQRankSum
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SIO_000300: 2.4e-2

ReadPosRankSum
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VQSLOD
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.922e1

QD
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BaseQRankSum
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SIO_000300: 2.26e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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
all individuals: 2608
bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.504233979941145e-5
allele num: 66604
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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SIO_000300: 1.256e1

MQRankSum
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SIO_000300: -1.23e-1

BaseQRankSum
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SIO_000300: 2.5e0

MQ
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SIO_000300: 5.965e1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -5.649999999999999e-1

VQSLOD
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SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 1.907e0

DP
type: SiteQuality
SIO_000300: 2.099356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

East Asian
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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
allele num: 16504
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.04e-1

InbreedingCoeff
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FS
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SIO_000300: 2.617e0

ReadPosRankSum
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SIO_000300: 1.62e0

BaseQRankSum
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SIO_000300: -9.77e-1

DP
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SIO_000300: 2.098205e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.096e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.361e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
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QD
type: SiteQuality
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MQRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 1.819e0

ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -4.14e-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: 6.25e1
variant carriers: 1

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

South Asian
type: Population
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allele frequency: 2.740516370979374e-3
allele num: 13866
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African
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allele count: 15
allele frequency: 2.420916720464816e-3
allele num: 6196
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 88
allele frequency: 1.857088591567129e-3
allele num: 47386
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 3.283712784588441e-4
allele num: 9136
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.639344262295082e-3
allele num: 610
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MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 4.56e-2

VQSLOD
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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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variant carriers: 1

African
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allele count: 2
allele frequency: 3.227888960619754e-4
allele num: 6196
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 610
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East Asian
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allele count: 0
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allele num: 7316
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South Asian
type: Population
allele count: 1
allele frequency: 7.211885186787827e-5
allele num: 13866
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.220655889925294e-5
allele num: 47386
num of homozygotes: 0

European (Finnish)
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VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
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FS
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

African
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allele count: 3
allele frequency: 4.841833440929632e-4
allele num: 6196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 4.378283712784588e-4
allele num: 9136
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.330983834887941e-5
allele num: 47386
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.442377037357565e-4
allele num: 13866
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

FS
type: SiteQuality
SIO_000300: 4.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 5.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.56e-2

DP
type: SiteQuality
SIO_000300: 1.073795e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeDepth
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4250
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
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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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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.010157165609881e-5
allele num: 66554
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.872e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 2.093767e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.499e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.091694e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.16e0

FS
type: SiteQuality
SIO_000300: 1.286e0

GenotypeDepth
all individuals: 6117
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variant carriers: 0

GenotypeDepth
all individuals: 80
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variant carriers: 0

GenotypeDepth
all individuals: 189
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variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 125
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 5059
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.735e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.090831e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 9.198e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3225
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GenotypeQuality
all individuals: 2605
bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.281e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.402e0

VQSLOD
type: SiteQuality
SIO_000300: -2.572e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.172000000000001e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 1.07e0

QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.941e0

MQ
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SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 2.581e0

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.312e0

DP
type: SiteQuality
SIO_000300: 2.088475e6

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

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

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

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

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

MQ
type: SiteQuality
SIO_000300: 6.019e1

DP
type: SiteQuality
SIO_000300: 2.084871e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 2.038e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.452e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 7.779e0

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 2.083573e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-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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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 2.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
type: SiteQuality
SIO_000300: 2.082905e6

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.042e0

QD
type: SiteQuality
SIO_000300: 2.697e1

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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013772942346524e-5
allele num: 66362
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: -2.042e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

FS
type: SiteQuality
SIO_000300: 2.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 2.082905e6

QD
type: SiteQuality
SIO_000300: 2.697e1

GenotypeQuality
all individuals: 5057
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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GenotypeQuality
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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: 12

GenotypeQuality
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GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 12
allele frequency: 1.389210465385506e-3
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.795e0

FS
type: SiteQuality
SIO_000300: 1.209e0

DP
type: SiteQuality
SIO_000300: 2.080502e6

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
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bin: 3.75e1
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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bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021421881137263e-5
allele num: 66194
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.078818e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 9.404999999999999e0

ClippingRankSum
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SIO_000300: -1.201e0

ReadPosRankSum
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SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
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SIO_000300: -1.781e0

QD
type: SiteQuality
SIO_000300: 1.453e1

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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variant carriers: 3

GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

DP
type: SiteQuality
SIO_000300: 2.078224e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -7.357e0

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.009489198465576e-4
allele num: 9906
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Other
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South 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
allele frequency: 1.510619656182966e-5
allele num: 66198
num of homozygotes: 0

East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.012e1

ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
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SIO_000300: -7.55e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
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South Asian
type: Population
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East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 2.077805e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 3.348e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.045e0

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
all individuals: 861
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15144
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7420
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.045e0

FS
type: SiteQuality
SIO_000300: 3.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

DP
type: SiteQuality
SIO_000300: 2.077805e6

QD
type: SiteQuality
SIO_000300: 1.335e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 16524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15142
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.807e0

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.987e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 2.077752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1