17-40725420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725420
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725420
    reference: chr 17
allele count: 7
allele frequency: 5.765872623636783e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.109-38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*359-38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.484-38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*248-38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1068-38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.448-38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.295-38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*413-38G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58080
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

17-40725431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725431
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.295-49G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.448-49G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.109-49G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*413-49G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*248-49G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.484-49G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*359-49G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1068-49G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58082
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

17-40725450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725450
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725450
    reference: chr 17
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+46A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+46A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+46A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+46A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+46A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+46A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+46A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+46A>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48409
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-40725452-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725452
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725452
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+44A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+44A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+44A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+44A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+44A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+44A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+44A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+44A>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

17-40725456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725456
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725456
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+40G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+40G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+40G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+40G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+40G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+40G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+40G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+40G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-40725462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725462
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+34T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+34T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+34T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+34T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+34T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+34T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+34T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+34T>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-40725462-ACCTGCACAGCGGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725449
    reference: chr 17
allele count: 11
allele frequency: 9.06065698000066e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: ACCTGCACAGCGGT
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-40725467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725467
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+29G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-40725470-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725470
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725470
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+26T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+26T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+26T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+26T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+26T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+26T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+26T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+26T>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

17-40725471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725471
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725471
    reference: chr 17
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+25C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+25C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+25C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+25C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+25C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+25C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+25C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+25C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 6.75e1
  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: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-40725472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725472
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725472
    reference: chr 17
allele count: 12
allele frequency: 9.885167306456661e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+24G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+24G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+24G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+24G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+24G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+24G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+24G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+24G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11011
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-40725473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725473
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725473
    reference: chr 17
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+23C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+23C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+23C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+23C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+23C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+23C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+23C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+23C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

17-40725474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725474
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725474
    reference: chr 17
allele count: 5
allele frequency: 4.118751853438334e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+22C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+22C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+22C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+22C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+22C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+22C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+22C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+22C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-40725476-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725476
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725476
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+20G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+20G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+20G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+20G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+20G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+20G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+20G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+20G>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-40725481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725481
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725481
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+15T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+15T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+15T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+15T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+15T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+15T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+15T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+15T>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-40725483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725483
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725483
    reference: chr 17
allele count: 6
allele frequency: 4.942257952916756e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+13G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-40725490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725490
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725490
    reference: chr 17
allele count: 37
allele frequency: 3.047725737632e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294+6C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358+6C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067+6C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483+6C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447+6C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412+6C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108+6C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247+6C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: c.483+6C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

17-40725496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725496
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725496
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1067G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*412G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.294G>A
  hgvsp: ENST00000587209.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.483G>A
  hgvsp: ENST00000393795.3:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.108G>A
  hgvsp: ENST00000590760.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*358G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.447G>A
  hgvsp: ENST00000253789.5:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*247G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10957
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: c.483G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-40725497-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725497
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725497
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.446A>C
  hgvsp: ENSP00000253789.4:p.Gln149Pro
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*357A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1066A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.482A>C
  hgvsp: ENSP00000377384.2:p.Gln161Pro
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.293A>C
  hgvsp: ENSP00000468188.1:p.Gln98Pro
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.107A>C
  hgvsp: ENSP00000466381.1:p.Gln36Pro
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*246A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*411A>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln161Pro
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-40725498-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725498
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.445C>G
  hgvsp: ENSP00000253789.4:p.Gln149Glu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*356C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.106C>G
  hgvsp: ENSP00000466381.1:p.Gln36Glu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.481C>G
  hgvsp: ENSP00000377384.2:p.Gln161Glu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.292C>G
  hgvsp: ENSP00000468188.1:p.Gln98Glu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*410C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1065C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*245C>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln161Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-40725498-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725496
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.443_444delAG
  hgvsp: ENSP00000253789.4:p.Glu148AlafsTer11
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*354_*355delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1063_1064delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.290_291delAG
  hgvsp: ENSP00000468188.1:p.Glu97AlafsTer11
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.479_480delAG
  hgvsp: ENSP00000377384.2:p.Glu160AlafsTer11
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.104_105delAG
  hgvsp: ENSP00000466381.1:p.Glu35AlafsTer11
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*243_*244delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*408_*409delAG
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu160AlafsTer11
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GCT
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-40725506-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725506
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.98A>T
  hgvsp: ENSP00000466381.1:p.Glu33Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.437A>T
  hgvsp: ENSP00000253789.4:p.Glu146Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1057A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.473A>T
  hgvsp: ENSP00000377384.2:p.Glu158Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*237A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*348A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.284A>T
  hgvsp: ENSP00000468188.1:p.Glu95Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*402A>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu158Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-40725512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725512
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725512
    reference: chr 17
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.278C>T
  hgvsp: ENSP00000468188.1:p.Pro93Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.431C>T
  hgvsp: ENSP00000253789.4:p.Pro144Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*342C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.467C>T
  hgvsp: ENSP00000377384.2:p.Pro156Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.92C>T
  hgvsp: ENSP00000466381.1:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1051C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*231C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro156Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-40725520-ATGATTGGTAGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725520
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725509
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsp: ENSP00000468188.1:p.Ala87CysfsTer18
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsp: ENSP00000253789.4:p.Ala138CysfsTer18
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.73_83delGCTACCAATCA
  hgvsp: ENSP00000466381.1:p.Ala25CysfsTer18
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsp: ENSP00000377384.2:p.Ala150CysfsTer18
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala150CysfsTer18
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: ATGATTGGTAGC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

17-40725521-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725521
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1042A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.422A>T
  hgvsp: ENSP00000253789.4:p.His141Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.458A>T
  hgvsp: ENSP00000377384.2:p.His153Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.269A>T
  hgvsp: ENSP00000468188.1:p.His90Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*387A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*333A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.83A>T
  hgvsp: ENSP00000466381.1:p.His28Leu
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*222A>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His153Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-40725524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725524
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*219A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.419A>G
  hgvsp: ENSP00000253789.4:p.Asn140Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.80A>G
  hgvsp: ENSP00000466381.1:p.Asn27Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*384A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.455A>G
  hgvsp: ENSP00000377384.2:p.Asn152Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.266A>G
  hgvsp: ENSP00000468188.1:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*330A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1039A>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn152Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

17-40725525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725525
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*383A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.265A>G
  hgvsp: ENSP00000468188.1:p.Asn89Asp
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*329A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*218A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.79A>G
  hgvsp: ENSP00000466381.1:p.Asn27Asp
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.418A>G
  hgvsp: ENSP00000253789.4:p.Asn140Asp
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1038A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.454A>G
  hgvsp: ENSP00000377384.2:p.Asn152Asp
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn152Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-40725529-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725529
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725529
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.261T>G
  hgvsp: ENST00000587209.1:c.261T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*325T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.414T>G
  hgvsp: ENST00000253789.5:c.414T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*379T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.450T>G
  hgvsp: ENST00000393795.3:c.450T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.75T>G
  hgvsp: ENST00000590760.1:c.75T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1034T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*214T>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala150Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-40725531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725531
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725531
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.412G>A
  hgvsp: ENSP00000253789.4:p.Ala138Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.259G>A
  hgvsp: ENSP00000468188.1:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*377G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*323G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.448G>A
  hgvsp: ENSP00000377384.2:p.Ala150Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.73G>A
  hgvsp: ENSP00000466381.1:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1032G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*212G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala150Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-40725533-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725533
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725533
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.410C>G
  hgvsp: ENSP00000253789.4:p.Ala137Gly
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*321C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*210C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.71C>G
  hgvsp: ENSP00000466381.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.446C>G
  hgvsp: ENSP00000377384.2:p.Ala149Gly
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1030C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.257C>G
  hgvsp: ENSP00000468188.1:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*375C>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala149Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-40725534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725534
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725534
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.70G>A
  hgvsp: ENSP00000466381.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.445G>A
  hgvsp: ENSP00000377384.2:p.Ala149Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.409G>A
  hgvsp: ENSP00000253789.4:p.Ala137Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*374G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*320G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.256G>A
  hgvsp: ENSP00000468188.1:p.Ala86Thr
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala149Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-40725538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725538
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725538
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1025T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.252T>C
  hgvsp: ENST00000587209.1:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.405T>C
  hgvsp: ENST00000253789.5:c.405T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.66T>C
  hgvsp: ENST00000590760.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*205T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*316T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*370T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.441T>C
  hgvsp: ENST00000393795.3:c.441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile147Ile
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-40725539-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725539
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725539
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.440T>G
  hgvsp: ENSP00000377384.2:p.Ile147Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*369T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1024T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.65T>G
  hgvsp: ENSP00000466381.1:p.Ile22Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*315T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*204T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.404T>G
  hgvsp: ENSP00000253789.4:p.Ile135Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.251T>G
  hgvsp: ENSP00000468188.1:p.Ile84Ser
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile147Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-40725543-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725544
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1019dupG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*364dupG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.435dupG
  hgvsp: ENSP00000377384.2:p.Asn146GlufsTer3
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*310dupG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.399dupG
  hgvsp: ENSP00000253789.4:p.Asn134GlufsTer3
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*199dupG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.60dupG
  hgvsp: ENSP00000466381.1:p.Asn21GlufsTer3
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.246dupG
  hgvsp: ENSP00000468188.1:p.Asn83GlufsTer3
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn146GlufsTer3
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-40725544-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725544
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.60G>T
  hgvsp: ENSP00000466381.1:p.Lys20Asn
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*364G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.399G>T
  hgvsp: ENSP00000253789.4:p.Lys133Asn
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.246G>T
  hgvsp: ENSP00000468188.1:p.Lys82Asn
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*310G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.435G>T
  hgvsp: ENSP00000377384.2:p.Lys145Asn
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*199G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1019G>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys145Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-40725549-A-ATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725549
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725551
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: ATC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.239_240dupGA
  hgvsp: ENSP00000468188.1:p.Leu81AspfsTer2
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.428_429dupGA
  hgvsp: ENSP00000377384.2:p.Leu144AspfsTer2
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.392_393dupGA
  hgvsp: ENSP00000253789.4:p.Leu132AspfsTer2
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*357_*358dupGA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*303_*304dupGA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1012_1013dupGA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.53_54dupGA
  hgvsp: ENSP00000466381.1:p.Leu19AspfsTer2
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*192_*193dupGA
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu144AspfsTer2
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

17-40725549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725549
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725549
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1014T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.394T>C
  hgvsp: ENST00000253789.5:c.394T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.55T>C
  hgvsp: ENST00000590760.1:c.55T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.241T>C
  hgvsp: ENST00000587209.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*305T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.430T>C
  hgvsp: ENST00000393795.3:c.430T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*359T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*194T>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu144Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-40725550-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725550
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*304A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.240A>C
  hgvsp: ENSP00000468188.1:p.Arg80Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.429A>C
  hgvsp: ENSP00000377384.2:p.Arg143Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.393A>C
  hgvsp: ENSP00000253789.4:p.Arg131Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*358A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1013A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.54A>C
  hgvsp: ENSP00000466381.1:p.Arg18Ser
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*193A>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg143Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-40725559-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725559
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725559
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.231C>G
  hgvsp: ENSP00000468188.1:p.Tyr77Ter
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*184C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.384C>G
  hgvsp: ENSP00000253789.4:p.Tyr128Ter
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.45C>G
  hgvsp: ENSP00000466381.1:p.Tyr15Ter
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*349C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.420C>G
  hgvsp: ENSP00000377384.2:p.Tyr140Ter
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*295C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.1004C>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr140Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-40725566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725566
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725566
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*288C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*342C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.224C>T
  hgvsp: ENSP00000468188.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.38C>T
  hgvsp: ENSP00000466381.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.413C>T
  hgvsp: ENSP00000377384.2:p.Ala138Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*177C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.377C>T
  hgvsp: ENSP00000253789.4:p.Ala126Val
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.997C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala138Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-40725567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725567
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.223G>A
  hgvsp: ENSP00000468188.1:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.376G>A
  hgvsp: ENSP00000253789.4:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.996G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*341G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.412G>A
  hgvsp: ENSP00000377384.2:p.Ala138Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.37G>A
  hgvsp: ENSP00000466381.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*287G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*176G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala138Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

17-40725568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725568
    reference: chr 17
allele count: 13
allele frequency: 1.070840197693575e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.375C>T
  hgvsp: ENST00000253789.5:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.995C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.36C>T
  hgvsp: ENST00000590760.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*175C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.222C>T
  hgvsp: ENST00000587209.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.411C>T
  hgvsp: ENST00000393795.3:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*340C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*286C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys137Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-40725583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725583
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725583
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*271G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.360G>A
  hgvsp: ENST00000253789.5:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.21G>A
  hgvsp: ENST00000590760.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.207G>A
  hgvsp: ENST00000587209.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.396G>A
  hgvsp: ENST00000393795.3:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*325G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.980G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu132Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

17-40725594-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725594
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725594
    reference: chr 17
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.196G>C
  hgvsp: ENSP00000468188.1:p.Glu66Gln
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.349G>C
  hgvsp: ENSP00000253789.4:p.Glu117Gln
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.969G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.385G>C
  hgvsp: ENSP00000377384.2:p.Glu129Gln
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*260G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*314G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.10G>C
  hgvsp: ENSP00000466381.1:p.Glu4Gln
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*149G>C
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48387
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu129Gln
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-40725599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725599
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725599
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.5A>G
  hgvsp: ENSP00000466381.1:p.Gln2Arg
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*144A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.380A>G
  hgvsp: ENSP00000377384.2:p.Gln127Arg
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.344A>G
  hgvsp: ENSP00000253789.4:p.Gln115Arg
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.191A>G
  hgvsp: ENSP00000468188.1:p.Gln64Arg
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*309A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*255A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.964A>G
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln127Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-40725604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725604
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725604
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.959G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.339G>A
  hgvsp: ENST00000253789.5:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.375G>A
  hgvsp: ENST00000393795.3:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.186G>A
  hgvsp: ENST00000587209.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*139G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*304G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*250G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: c.339G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

17-40725616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725616
    reference: chr 17
allele count: 64
allele frequency: 5.271915517553831e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.947G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*292G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.174G>A
  hgvsp: ENST00000587209.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.363G>A
  hgvsp: ENST00000393795.3:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*127G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-11G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10924
  bin: 9.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48388
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu121Leu
num of homozygotes: 1
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

17-40725619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725619
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725619
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*235C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*124C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.171C>T
  hgvsp: ENST00000587209.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*289C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-14C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.360C>T
  hgvsp: ENST00000393795.3:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.944C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48384
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala120Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-40725634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725634
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725634
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.345G>A
  hgvsp: ENST00000393795.3:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-31G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*274G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-29G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.156G>A
  hgvsp: ENST00000587209.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.929G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys115Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-40725636-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725636
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725636
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*107A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-33A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*218A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*272A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.154A>T
  hgvsp: ENSP00000468188.1:p.Lys52Ter
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.343A>T
  hgvsp: ENSP00000377384.2:p.Lys115Ter
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-31A>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.927A>T
  variant of: http://identifiers.org/hgnc/17928
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys115Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

17-40725652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725652
    reference: chr 17
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-11T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-11T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-47T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.911T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-11T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-11T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-11T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-11T>C
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-40725655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725655
    reference: chr 17
allele count: 5
allele frequency: 4.122147473948028e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-14G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-14G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-14G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-14G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-14G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.908G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-50G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-14G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-40725655-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725654
    reference: chr 17
allele count: 6
allele frequency: 4.946576968737634e-5
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-15delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.907delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-15delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-15delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-15delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-15delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-51delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-15delC
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

17-40725656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725656
    reference: chr 17
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.907C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-15C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-51C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-15C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-15C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-15C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-15C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-15C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-40725656-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725656
    reference: chr 17
allele count: 68048
allele frequency: 5.61674590596936e-1
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-15C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-15C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-15C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-15C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-15C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.907C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-15C>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-51C>G
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 4.75e1
  variant carriers: 2401
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.75e1
  variant carriers: 588
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 7.75e1
  variant carriers: 3945
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.25e1
  variant carriers: 852
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 6.75e1
  variant carriers: 4512
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.75e1
  variant carriers: 1256
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 5.75e1
  variant carriers: 3973
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.25e1
  variant carriers: 3198
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 8.25e1
  variant carriers: 3227
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.25e1
  variant carriers: 329
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 9.25e1
  variant carriers: 1944
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 8.75e1
  variant carriers: 2616
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 4.25e1
  variant carriers: 1792
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 6.25e1
  variant carriers: 4367
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 7.25e1
  variant carriers: 4377
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 9.75e1
  variant carriers: 9039
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 6.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 9.25e1
  variant carriers: 153
num of homozygotes: 19454
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-40725656-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725656
    reference: chr 17
allele count: 22
allele frequency: 1.815900686740623e-4
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-15C>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-15C>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-15C>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-15C>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-51C>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.907C>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-15C>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-15C>A
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-40725658-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725658
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725656
    reference: chr 17
allele count: 5
allele frequency: 4.132982856387112e-5
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-55_338-54delCA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-19_*102-18delCA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-19_149-18delCA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.903_904delCA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-19_*213-18delCA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-19_-38-18delCA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-19_338-18delCA
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-19_*267-18delCA
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: CTG
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-40725659-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725659
    reference: chr 17
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-18A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-18A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-18A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-18A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-18A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.904A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-18A>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-54A>C
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-40725666-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725666
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725666
    reference: chr 17
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-25T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-25T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-25T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-25T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-25T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-25T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.897T>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-61T>G
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-40725671-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725671
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725671
    reference: chr 17
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-30G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.892G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-30G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-30G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-66G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-30G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-30G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-30G>T
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-40725676-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725676
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725674
    reference: chr 17
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-37_149-36delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-37_*213-36delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-73_338-72delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.885_886delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-37_*102-36delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-37_-38-36delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-37_338-36delAG
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-37_*267-36delAG
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: CCT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-40725678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725678
    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: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-37A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.885A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-37A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-37A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-73A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-37A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-37A>G
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-37A>G
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21591
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-40725683-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725683
    reference: chr 17
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-42T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-78T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-42T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-42T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.880T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-42T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-42T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*267-42T>C
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

17-40725788-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725788
    reference: chr 17
allele count: 127
allele frequency: 5.821415474880821e-3
allele num: 21816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-147T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-147T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-147T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-147T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-147T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-183T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.775T>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+49T>C
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 24360
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15108
  bin: 7.5e0
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 1.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25986
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 8154
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 2.5e0
  variant carriers: 1
num of homozygotes: 3
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-40725798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725798
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725798
    reference: chr 17
allele count: 2
allele frequency: 1.128795575121345e-4
allele num: 17718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.765G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-157G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-157G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-157G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-157G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+39G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-157G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-193G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21731
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22229
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4912
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-40725799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725799
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725799
    reference: chr 17
allele count: 11409
allele frequency: 5.934151669614064e-1
allele num: 19226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-194G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.764G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-158G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-158G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-158G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+38G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-158G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-158G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 1.75e1
  variant carriers: 2169
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 7.5e0
  variant carriers: 10189
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.25e1
  variant carriers: 1268
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 1.25e1
  variant carriers: 3587
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 18179
  bin: 2.5e0
  variant carriers: 6022
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.75e1
  variant carriers: 557
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 308
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 1114
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 6.25e1
  variant carriers: 762
genotype quality: GenotypeQuality
  all individuals: 10188
  bin: 7.5e0
  variant carriers: 2911
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.75e1
  variant carriers: 475
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 1.75e1
  variant carriers: 3131
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 6.75e1
  variant carriers: 611
num of homozygotes: 3229
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-40725804-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725804
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 14860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-163G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-163G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-163G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-163G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.759G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-199G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+33G>C
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-163G>C
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 1.25e1
  variant carriers: 0
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: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30116
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  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: 1561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/17-40725808-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725808
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725808
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 14204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.755G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-167G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+29G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-167G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-167G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-167G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-203G>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-167G>T
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29512
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  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: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-40725813-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725813
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725812
    reference: chr 17
allele count: 1
allele frequency: 7.126567844925884e-5
allele num: 14032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-173delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-173delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-173delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-173delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.749delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+23delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-173delC
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-209delC
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  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: 2729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: AG
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-40725818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725818
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 13552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-177G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+19G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.745G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-177G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-177G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-177G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-213G>A
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-177G>A
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28312
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.25e1
  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: 1
  bin: 9.75e1
  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 quality: GenotypeQuality
  all individuals: 2256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-40725819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40725819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 40725819
    reference: chr 17
allele count: 2
allele frequency: 1.475143826523086e-4
allele num: 13558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000377384
  ensembl transcript: ENST00000393795
  gene symbol: PSMC3IP
  hgvsc: ENST00000393795.3:c.338-178C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000468188
  ensembl transcript: ENST00000587209
  gene symbol: PSMC3IP
  hgvsc: ENST00000587209.1:c.149-178C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466381
  ensembl transcript: ENST00000590760
  gene symbol: PSMC3IP
  hgvsc: ENST00000590760.1:c.-38-178C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000467952
  ensembl transcript: ENST00000590931
  gene symbol: PSMC3IP
  hgvsc: ENST00000590931.1:c.*266+18C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000466031
  ensembl transcript: ENST00000586337
  gene symbol: PSMC3IP
  hgvsc: ENST00000586337.1:c.*102-178C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131470
  ensembl transcript: ENST00000589505
  gene symbol: PSMC3IP
  hgvsc: ENST00000589505.1:n.744C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000253789
  ensembl transcript: ENST00000253789
  gene symbol: PSMC3IP
  hgvsc: ENST00000253789.5:c.338-214C>T
  variant of: http://identifiers.org/hgnc/17928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131470
  ensembl protein: ENSP00000465409
  ensembl transcript: ENST00000588544
  gene symbol: PSMC3IP
  hgvsc: ENST00000588544.1:c.*213-178C>T
  variant of: http://identifiers.org/hgnc/17928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27978
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.724e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

DP
type: SiteQuality
SIO_000300: 5.049139e6

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e0

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 2.432e0

DP
type: SiteQuality
SIO_000300: 5.049328e6

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 1.375e1

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

GenotypeQuality
all individuals: 1603
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.535e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

DP
type: SiteQuality
SIO_000300: 4.396546e6

GenotypeQuality
all individuals: 48409
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.636e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.249e1

DP
type: SiteQuality
SIO_000300: 4.396243e6

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

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

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

GenotypeQuality
all individuals: 1642
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48408
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.806e0

QD
type: SiteQuality
SIO_000300: 1.255e1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.358000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 4.396189e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
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: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: -7.154e0

MQ
type: SiteQuality
SIO_000300: 5.205e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 4.396501e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.271088513981974e-3
allele num: 8654
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: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 4.27e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

DP
type: SiteQuality
SIO_000300: 4.396501e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

FS
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

DP
type: SiteQuality
SIO_000300: 4.395854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.991e1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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ClippingRankSum
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FS
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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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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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InbreedingCoeff
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DP
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QD
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MQ
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.198789222884886e-4
allele num: 66734
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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Latino
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allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8646
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Other
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allele num: 906
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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FS
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QD
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DP
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BaseQRankSum
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MQ
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SIO_000300: 5.976e1

MQRankSum
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SIO_000300: 1.85e-1

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.097e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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QD
type: SiteQuality
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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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8646
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
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allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

QD
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 6.36e-1

VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

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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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East 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: 10404
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.056935190793458e-5
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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DP
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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allele frequency: 5.182242183451373e-4
allele num: 11578
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VQSLOD
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BaseQRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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allele frequency: 1.554672655035412e-3
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 1.155535012710885e-4
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European (Non-Finnish)
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allele frequency: 2.547427098630383e-4
allele num: 66734
num of homozygotes: 0

Other
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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DP
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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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 frequency: 0.0e0
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African
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allele num: 10402
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Latino
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South Asian
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allele frequency: 0.0e0
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MQ
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.637070305752289e-5
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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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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VQSLOD
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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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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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

South Asian
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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

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

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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African
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Other
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European (Non-Finnish)
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allele count: 1
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allele num: 66734
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MQRankSum
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VQSLOD
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DP
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FS
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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Latino
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allele num: 11578
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Other
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African
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European (Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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DP
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QD
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VQSLOD
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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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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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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Other
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African
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MQ
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DP
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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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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Other
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East Asian
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European (Finnish)
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Latino
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South Asian
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African
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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European (Finnish)
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FS
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BaseQRankSum
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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FS
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DP
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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BaseQRankSum
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FS
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MQRankSum
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QD
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQ
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MQRankSum
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DP
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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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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African
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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VQSLOD
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FS
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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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num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

South Asian
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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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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

East Asian
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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DP
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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Other
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FS
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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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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East Asian
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Latino
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Other
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European (Non-Finnish)
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South Asian
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African
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 4.645308238678934e-4
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South Asian
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East Asian
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African
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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FS
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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QD
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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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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South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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VQSLOD
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MQ
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MQRankSum
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FS
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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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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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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South Asian
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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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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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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DP
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FS
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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MQ
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FS
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VQSLOD
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ClippingRankSum
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SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.525e0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

DP
type: SiteQuality
SIO_000300: 4.373483e6

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

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48372
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 6
allele frequency: 5.774783445620789e-4
allele num: 10390
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.525e0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

FS
type: SiteQuality
SIO_000300: 3.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

DP
type: SiteQuality
SIO_000300: 4.373483e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52064
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
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: 11538
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.225481e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 2.472e1

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 85

GenotypeQuality
all individuals: 52064
bin: 9.75e1
variant carriers: 47840

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1281
bin: 6.75e1
variant carriers: 60

GenotypeQuality
all individuals: 594
bin: 7.25e1
variant carriers: 42

GenotypeQuality
all individuals: 967
bin: 8.25e1
variant carriers: 94

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 9

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 38

European (Non-Finnish)
type: Population
allele count: 36222
allele frequency: 5.435147950303103e-1
allele num: 66644
num of homozygotes: 9985

East Asian
type: Population
allele count: 3793
allele frequency: 4.423839514812223e-1
allele num: 8574
num of homozygotes: 783

South Asian
type: Population
allele count: 10614
allele frequency: 6.430388949472919e-1
allele num: 16506
num of homozygotes: 3457

African
type: Population
allele count: 7098
allele frequency: 6.838150289017341e-1
allele num: 10380
num of homozygotes: 2425

Latino
type: Population
allele count: 6307
allele frequency: 5.46628531807939e-1
allele num: 11538
num of homozygotes: 1732

European (Finnish)
type: Population
allele count: 3523
allele frequency: 5.334645669291339e-1
allele num: 6604
num of homozygotes: 937

Other
type: Population
allele count: 491
allele frequency: 5.419426048565121e-1
allele num: 906
num of homozygotes: 135

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 4.225481e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

QD
type: SiteQuality
SIO_000300: 2.472e1

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

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52064
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 2825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.15107136426385e-4
allele num: 66644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 8574
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 4.225481e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 2.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

GenotypeQuality
all individuals: 2729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21662
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 5
allele frequency: 4.827186715582159e-4
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.605449e6

QD
type: SiteQuality
SIO_000300: 6.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.184e0

FS
type: SiteQuality
SIO_000300: 4.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.19e-1

GenotypeQuality
all individuals: 3723
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21639
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5925
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 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: 6610
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.478e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 2.599269e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.176e0

QD
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 4389
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21623
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
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: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.772e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 2.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e0

DP
type: SiteQuality
SIO_000300: 2.586298e6

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

GenotypeQuality
all individuals: 2168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50934283213089e-5
allele num: 66254
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

VQSLOD
type: SiteQuality
SIO_000300: -1.306e0

DP
type: SiteQuality
SIO_000300: 2.567993e6

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.618e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 2.991e0

QD
type: SiteQuality
SIO_000300: 1.162e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 2.549115e6

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

QD
type: SiteQuality
SIO_000300: 3.328e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

QD
type: SiteQuality
SIO_000300: 7.5e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 2.540625e6

FS
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

GenotypeQuality
all individuals: 9187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

FS
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.642e1

QD
type: SiteQuality
SIO_000300: 9.77e0

DP
type: SiteQuality
SIO_000300: 2.522387e6

VQSLOD
type: SiteQuality
SIO_000300: -1.258e0

GenotypeQuality
all individuals: 4229
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1061
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1117
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 126
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1637
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 15

GenotypeQuality
all individuals: 340
bin: 9.75e1
variant carriers: 151

GenotypeQuality
all individuals: 573
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 330
bin: 6.75e1
variant carriers: 4

Latino
type: Population
allele count: 2
allele frequency: 3.144654088050315e-3
allele num: 636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

African
type: Population
allele count: 125
allele frequency: 6.456611570247933e-2
allele num: 1936
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

QD
type: SiteQuality
SIO_000300: 1.681e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 3.53321e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4827
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4677
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.963788300835655e-4
allele num: 1436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.346257404415724e-4
allele num: 7428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6990
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.059e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.315e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

DP
type: SiteQuality
SIO_000300: 3.25453e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 253

GenotypeQuality
all individuals: 7779
bin: 2.5e0
variant carriers: 43

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 561

GenotypeQuality
all individuals: 1395
bin: 2.75e1
variant carriers: 1189

GenotypeQuality
all individuals: 2502
bin: 1.25e1
variant carriers: 2257

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 488

GenotypeQuality
all individuals: 3286
bin: 2.25e1
variant carriers: 1952

GenotypeQuality
all individuals: 255
bin: 7.75e1
variant carriers: 246

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 528

GenotypeQuality
all individuals: 6090
bin: 9.75e1
variant carriers: 6088

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 578

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 376

GenotypeQuality
all individuals: 584
bin: 5.75e1
variant carriers: 571

Latino
type: Population
allele count: 303
allele frequency: 5.872093023255814e-1
allele num: 516
num of homozygotes: 86

Other
type: Population
allele count: 115
allele frequency: 5.693069306930693e-1
allele num: 202
num of homozygotes: 34

East Asian
type: Population
allele count: 410
allele frequency: 5.324675324675324e-1
allele num: 770
num of homozygotes: 81

European (Non-Finnish)
type: Population
allele count: 4368
allele frequency: 5.501259445843829e-1
allele num: 7940
num of homozygotes: 1108

South Asian
type: Population
allele count: 5137
allele frequency: 6.558988764044944e-1
allele num: 7832
num of homozygotes: 1661

European (Finnish)
type: Population
allele count: 239
allele frequency: 5.915841584158416e-1
allele num: 404
num of homozygotes: 59

African
type: Population
allele count: 837
allele frequency: 5.358514724711908e-1
allele num: 1562
num of homozygotes: 200

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.083e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.1e0

QD
type: SiteQuality
SIO_000300: 2.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 3.30682e5

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1946
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5618
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28844
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 914
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.57286e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.12e-2

QD
type: SiteQuality
SIO_000300: 3.175e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 4841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 707
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 2.44275e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.059308072487644e-4
allele num: 4856
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.3905e5

MQ
type: SiteQuality
SIO_000300: 5.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.711e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.679999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26036
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 720
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 2.32543e5

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1