8-145153978-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145153978
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145153978
    reference: chr 8
allele count: 1
allele frequency: 8.774854776153454e-6
allele num: 113962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.171+6C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-81C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1047+6C>G
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1047+6C>G
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

8-145153981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145153981
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145153981
    reference: chr 8
allele count: 1
allele frequency: 8.789045333895832e-6
allele num: 113778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.171+3G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-84G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1047+3G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1047+3G>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-145153987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145153987
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145153987
    reference: chr 8
allele count: 1
allele frequency: 8.820520057862612e-6
allele num: 113372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-90C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.168C>T
  hgvsp: ENST00000532536.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1044C>T
  hgvsp: ENST00000398712.2:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu348Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-145153989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145153989
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145153989
    reference: chr 8
allele count: 1
allele frequency: 8.816476230780082e-6
allele num: 113424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.166C>T
  hgvsp: ENSP00000432355.1:p.Leu56Phe
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1042C>T
  hgvsp: ENSP00000381698.2:p.Leu348Phe
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-92C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu348Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

8-145153990-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145153990
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145153990
    reference: chr 8
allele count: 11
allele frequency: 9.716284492809949e-5
allele num: 113212
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1041A>C
  hgvsp: ENST00000398712.2:c.1041A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.165A>C
  hgvsp: ENST00000532536.1:c.165A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-93A>C
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13332
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro347Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-145154000-AGGCTGGAGGCAGCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154000
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145153986
    reference: chr 8
allele count: 1
allele frequency: 8.875319511502414e-6
allele num: 112672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsp: ENSP00000381698.2:p.Ala341GlnfsTer24
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsp: ENSP00000432355.1:p.Ala49GlnfsTer24
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30447
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala341GlnfsTer24
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: AGGCTGGAGGCAGCT
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

8-145154006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154006
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154006
    reference: chr 8
allele count: 1
allele frequency: 8.871697510601678e-6
allele num: 112718
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1025C>T
  hgvsp: ENSP00000381698.2:p.Ser342Phe
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-109C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.149C>T
  hgvsp: ENSP00000432355.1:p.Ser50Phe
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser342Phe
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-145154008-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154008
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154008
    reference: chr 8
allele count: 1
allele frequency: 8.871854927428227e-6
allele num: 112716
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1023C>G
  hgvsp: ENST00000398712.2:c.1023C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-111C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.147C>G
  hgvsp: ENST00000532536.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala341Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

8-145154015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154015
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154015
    reference: chr 8
allele count: 1
allele frequency: 8.905829756158382e-6
allele num: 112286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1016C>T
  hgvsp: ENSP00000381698.2:p.Pro339Leu
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-118C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.140C>T
  hgvsp: ENSP00000432355.1:p.Pro47Leu
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro339Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

8-145154020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154020
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154020
    reference: chr 8
allele count: 6
allele frequency: 5.368935340122054e-5
allele num: 111754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1011C>T
  hgvsp: ENST00000398712.2:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-123C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.135C>T
  hgvsp: ENST00000532536.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17164
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro337Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-145154023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154023
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154023
    reference: chr 8
allele count: 1
allele frequency: 8.950147677436678e-6
allele num: 111730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-126C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1008C>T
  hgvsp: ENST00000398712.2:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.132C>T
  hgvsp: ENST00000532536.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly336Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-145154025-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154025
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154025
    reference: chr 8
allele count: 1
allele frequency: 8.956721123531098e-6
allele num: 111648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1006G>T
  hgvsp: ENSP00000381698.2:p.Gly336Cys
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.130G>T
  hgvsp: ENSP00000432355.1:p.Gly44Cys
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-128G>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29934
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly336Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

8-145154028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154028
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154028
    reference: chr 8
allele count: 1
allele frequency: 8.965072079179517e-6
allele num: 111544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1003C>T
  hgvsp: ENSP00000381698.2:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-131C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.127C>T
  hgvsp: ENSP00000432355.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro335Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-145154031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154031
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154031
    reference: chr 8
allele count: 1
allele frequency: 8.96523282709652e-6
allele num: 111542
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.1000C>G
  hgvsp: ENSP00000381698.2:p.Pro334Ala
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-134C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.124C>G
  hgvsp: ENSP00000432355.1:p.Pro42Ala
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30530
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro334Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

8-145154034-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154034
    reference: chr 8
allele count: 3
allele frequency: 2.692514808831449e-5
allele num: 111420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.121C>G
  hgvsp: ENSP00000432355.1:p.Leu41Val
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.997C>G
  hgvsp: ENSP00000381698.2:p.Leu333Val
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.923-137C>G
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu333Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

8-145154040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154040
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154040
    reference: chr 8
allele count: 8
allele frequency: 7.173987122693115e-5
allele num: 111514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.115T>C
  hgvsp: ENST00000532536.1:c.115T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+140T>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.991T>C
  hgvsp: ENST00000398712.2:c.991T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Leu331Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-145154042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154042
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154042
    reference: chr 8
allele count: 1
allele frequency: 8.964429145152036e-6
allele num: 111552
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.989C>T
  hgvsp: ENSP00000381698.2:p.Ser330Leu
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.113C>T
  hgvsp: ENSP00000432355.1:p.Ser38Leu
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+138C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser330Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS

8-145154044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154044
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154044
    reference: chr 8
allele count: 1
allele frequency: 8.967644737786067e-6
allele num: 111512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+136A>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.987A>G
  hgvsp: ENST00000398712.2:c.987A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.111A>G
  hgvsp: ENST00000532536.1:c.111A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro329Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

8-145154057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154057
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154057
    reference: chr 8
allele count: 13
allele frequency: 1.165104232017064e-4
allele num: 111578
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.974G>A
  hgvsp: ENSP00000381698.2:p.Arg325His
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.98G>A
  hgvsp: ENSP00000432355.1:p.Arg33His
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+123G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7900
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genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 456
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genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg325His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

8-145154058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154058
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154058
    reference: chr 8
allele count: 11
allele frequency: 9.840054388664257e-5
allele num: 111788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+122C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.97C>T
  hgvsp: ENSP00000432355.1:p.Arg33Cys
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.973C>T
  hgvsp: ENSP00000381698.2:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14033
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17490
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32545
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg325Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-145154070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154070
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154070
    reference: chr 8
allele count: 17
allele frequency: 1.516557236654296e-4
allele num: 112096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+110G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.961G>A
  hgvsp: ENSP00000381698.2:p.Gly321Arg
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.85G>A
  hgvsp: ENSP00000432355.1:p.Gly29Arg
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14468
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 33454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly321Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-145154071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154071
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154071
    reference: chr 8
allele count: 7
allele frequency: 6.229864188960681e-5
allele num: 112362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+109C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.84C>T
  hgvsp: ENST00000532536.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.960C>T
  hgvsp: ENST00000398712.2:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18042
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14594
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Asp320Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-145154077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154077
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154077
    reference: chr 8
allele count: 1
allele frequency: 8.874059349708931e-6
allele num: 112688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.78G>T
  hgvsp: ENSP00000432355.1:p.Lys26Asn
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.954G>T
  hgvsp: ENSP00000381698.2:p.Lys318Asn
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+103G>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8223
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys318Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-145154080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154080
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154080
    reference: chr 8
allele count: 5
allele frequency: 4.433488801007288e-5
allele num: 112778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+100G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.951G>A
  hgvsp: ENST00000398712.2:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.75G>A
  hgvsp: ENST00000532536.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln317Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

8-145154086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154086
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154086
    reference: chr 8
allele count: 8
allele frequency: 7.067262672485379e-5
allele num: 113198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.69C>G
  hgvsp: ENSP00000432355.1:p.His23Gln
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+94C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.945C>G
  hgvsp: ENSP00000381698.2:p.His315Gln
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15148
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35101
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His315Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-145154091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154091
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154091
    reference: chr 8
allele count: 2
allele frequency: 1.76084238699794e-5
allele num: 113582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.64C>T
  hgvsp: ENSP00000432355.1:p.Gln22Ter
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+89C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.940C>T
  hgvsp: ENSP00000381698.2:p.Gln314Ter
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln314Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

8-145154099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154099
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154099
    reference: chr 8
allele count: 3
allele frequency: 2.629595217642831e-5
allele num: 114086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+81C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.932C>T
  hgvsp: ENSP00000381698.2:p.Pro311Leu
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.56C>T
  hgvsp: ENSP00000432355.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro311Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

8-145154099-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154099
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154099
    reference: chr 8
allele count: 258
allele frequency: 2.261451887172835e-3
allele num: 114086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+81C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.56C>G
  hgvsp: ENSP00000432355.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.932C>G
  hgvsp: ENSP00000381698.2:p.Pro311Arg
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18753
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 250
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro311Arg
num of homozygotes: 5
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-145154112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154112
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154112
    reference: chr 8
allele count: 207
allele frequency: 1.852647406293631e-3
allele num: 111732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+68T>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.923-4T>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.47-4T>C
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 15049
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 18579
  bin: 2.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 34501
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8125
  bin: 6.75e1
  variant carriers: 19
hgvs: c.923-4T>C
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: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-145154115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154115
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154115
    reference: chr 8
allele count: 1
allele frequency: 8.700948403375968e-6
allele num: 114930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.923-7C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+65C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.47-7C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
hgvs: c.923-7C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

8-145154118-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154118
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154118
    reference: chr 8
allele count: 2
allele frequency: 1.755340623848058e-5
allele num: 113938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.47-10A>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.923-10A>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+62A>C
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8208
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

8-145154119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154119
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154119
    reference: chr 8
allele count: 6
allele frequency: 5.206886975840044e-5
allele num: 115232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+61C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.47-11C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.923-11C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8569
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

8-145154140-G-GCACCCCACCTCCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154140
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154154
    reference: chr 8
allele count: 1
allele frequency: 8.541314337450248e-6
allele num: 117078
alternate allele: GCACCCCACCTCCCA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38629
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

8-145154141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154141
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154141
    reference: chr 8
allele count: 15
allele frequency: 1.279841640927629e-4
allele num: 117202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.47-33G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.923-33G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+39G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17407
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38598
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

8-145154143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154143
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154143
    reference: chr 8
allele count: 4
allele frequency: 3.404603023287484e-5
allele num: 117488
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.923-35G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.47-35G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+37G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-145154160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154160
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154160
    reference: chr 8
allele count: 2
allele frequency: 1.68251030537562e-5
allele num: 118870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+20G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.922+20G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.666G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.46+20G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-145154163-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154163
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154163
    reference: chr 8
allele count: 1
allele frequency: 8.396164631996104e-6
allele num: 119102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+17G>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.46+17G>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.922+17G>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.663G>C
  variant of: http://identifiers.org/hgnc/25321
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-145154165-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154165
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154165
    reference: chr 8
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.46+15G>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+15G>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.661G>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.922+15G>T
  variant of: http://identifiers.org/hgnc/25321
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-145154170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154170
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154170
    reference: chr 8
allele count: 2
allele frequency: 1.674116485025028e-5
allele num: 119466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+10C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.46+10C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.922+10C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.656C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-145154171-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154171
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154171
    reference: chr 8
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.922+9T>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+9T>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.655T>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.46+9T>G
  variant of: http://identifiers.org/hgnc/25321
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

8-145154176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154176
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154176
    reference: chr 8
allele count: 111
allele frequency: 9.274887615100519e-4
allele num: 119678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.46+4A>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922+4A>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.650A>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.922+4A>G
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21267
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: c.922+4A>G
num of homozygotes: 2
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

8-145154180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154180
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154180
    reference: chr 8
allele count: 1
allele frequency: 8.349893956346754e-6
allele num: 119762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.646G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.46G>A
  hgvsp: ENSP00000432355.1:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.922G>A
  hgvsp: ENSP00000352551.6:p.Ala308Thr
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.922G>A
  hgvsp: ENSP00000381698.2:p.Ala308Thr
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala308Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

8-145154181-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154181
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154181
    reference: chr 8
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.45A>G
  hgvsp: ENST00000532536.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.921A>G
  hgvsp: ENST00000398712.2:c.921A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.921A>G
  hgvsp: ENST00000359551.6:c.921A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.645A>G
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
hgvs: c.921A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-145154184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154184
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154184
    reference: chr 8
allele count: 32
allele frequency: 2.669736864060336e-4
allele num: 119862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.642C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.918C>T
  hgvsp: ENST00000359551.6:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.918C>T
  hgvsp: ENST00000398712.2:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.42C>T
  hgvsp: ENST00000532536.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21402
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala306Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-145154186-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154186
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154186
    reference: chr 8
allele count: 1
allele frequency: 8.340144451301897e-6
allele num: 119902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.40G>T
  hgvsp: ENSP00000432355.1:p.Ala14Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.916G>T
  hgvsp: ENSP00000381698.2:p.Ala306Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.916G>T
  hgvsp: ENSP00000352551.6:p.Ala306Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.640G>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala306Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-145154188-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154188
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154188
    reference: chr 8
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.914A>G
  hgvsp: ENSP00000381698.2:p.Glu305Gly
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.38A>G
  hgvsp: ENSP00000432355.1:p.Glu13Gly
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.914A>G
  hgvsp: ENSP00000352551.6:p.Glu305Gly
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.638A>G
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu305Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

8-145154191-CGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154191
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154188
    reference: chr 8
allele count: 1
allele frequency: 8.336807002917883e-6
allele num: 119950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.908_910delCTC
  hgvsp: ENSP00000381698.2:p.Pro303del
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.32_34delCTC
  hgvsp: ENSP00000432355.1:p.Pro11del
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.908_910delCTC
  hgvsp: ENSP00000352551.6:p.Pro303del
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.632_634delCTC
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro303del
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: CGAG
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

8-145154192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154192
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154192
    reference: chr 8
allele count: 2
allele frequency: 1.666722224074136e-5
allele num: 119996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.34C>T
  hgvsp: ENSP00000432355.1:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.910C>T
  hgvsp: ENSP00000352551.6:p.Arg304Ter
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.634C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.910C>T
  hgvsp: ENSP00000381698.2:p.Arg304Ter
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg304Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

8-145154195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154195
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154195
    reference: chr 8
allele count: 39
allele frequency: 3.248321700454765e-4
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.907C>T
  hgvsp: ENSP00000381698.2:p.Pro303Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.631C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.932C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.907C>T
  hgvsp: ENSP00000352551.6:p.Pro303Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.31C>T
  hgvsp: ENSP00000432355.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21498
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9296
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro303Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

8-145154202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154202
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154202
    reference: chr 8
allele count: 6
allele frequency: 4.994007191370355e-5
allele num: 120144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.900G>A
  hgvsp: ENST00000359551.6:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.624G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.900G>A
  hgvsp: ENST00000398712.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.925G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.24G>A
  hgvsp: ENST00000532536.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu300Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

8-145154213-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154213
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154213
    reference: chr 8
allele count: 12
allele frequency: 9.980703972320181e-5
allele num: 120232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.512C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.889C>G
  hgvsp: ENSP00000352551.6:p.Leu297Val
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.613C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.13C>G
  hgvsp: ENSP00000432355.1:p.Leu5Val
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.889C>G
  hgvsp: ENSP00000381698.2:p.Leu297Val
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.914C>G
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu297Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-145154218-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154218
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154218
    reference: chr 8
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.909C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.8C>G
  hgvsp: ENSP00000432355.1:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.884C>G
  hgvsp: ENSP00000381698.2:p.Ala295Gly
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.608C>G
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.884C>G
  hgvsp: ENSP00000352551.6:p.Ala295Gly
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.507C>G
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala295Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS

8-145154222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154222
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154222
    reference: chr 8
allele count: 3615
allele frequency: 3.006187007284702e-2
allele num: 120252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.880C>T
  hgvsp: ENSP00000381698.2:p.Pro294Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.4C>T
  hgvsp: ENSP00000432355.1:p.Pro2Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.503C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.604C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.880C>T
  hgvsp: ENSP00000352551.6:p.Pro294Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.905C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 17603
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 3.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 10825
  bin: 3.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 4.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 859
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 9.75e1
  variant carriers: 3524
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8740
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Pro294Ser
num of homozygotes: 82
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

8-145154225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154225
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154225
    reference: chr 8
allele count: 5
allele frequency: 4.157796700372538e-5
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.877G>A
  hgvsp: ENSP00000381698.2:p.Asp293Asn
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.902G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000432355
  ensembl transcript: ENST00000532536
  gene symbol: SHARPIN
  hgvsc: ENST00000532536.1:c.1G>A
  hgvsp: ENSP00000432355.1:p.Asp1?
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.601G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.877G>A
  hgvsp: ENSP00000352551.6:p.Asp293Asn
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.500G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1?
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

8-145154226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154226
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154226
    reference: chr 8
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.600G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.876G>A
  hgvsp: ENST00000398712.2:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.901G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.876G>A
  hgvsp: ENST00000359551.6:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.499G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly292Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-145154236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154236
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154236
    reference: chr 8
allele count: 2
allele frequency: 1.66267624368183e-5
allele num: 120288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.866G>A
  hgvsp: ENSP00000352551.6:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.891G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.866G>A
  hgvsp: ENSP00000381698.2:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.590G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.489G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg289Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-145154237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154237
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154237
    reference: chr 8
allele count: 2
allele frequency: 1.662786830728301e-5
allele num: 120280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.488C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.890C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.865C>T
  hgvsp: ENSP00000381698.2:p.Arg289Trp
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.865C>T
  hgvsp: ENSP00000352551.6:p.Arg289Trp
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.589C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg289Trp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

8-145154243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154243
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154243
    reference: chr 8
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.583G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.884G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.859G>A
  hgvsp: ENSP00000381698.2:p.Gly287Arg
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.482G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.859G>A
  hgvsp: ENSP00000352551.6:p.Gly287Arg
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly287Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-145154244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154244
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154244
    reference: chr 8
allele count: 9
allele frequency: 7.482291909148349e-5
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.883C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.481C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.858C>T
  hgvsp: ENST00000359551.6:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.858C>T
  hgvsp: ENST00000398712.2:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.582C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr286Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

8-145154257-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154257
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154257
    reference: chr 8
allele count: 6905
allele frequency: 5.744018899943433e-2
allele num: 120212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.845G>C
  hgvsp: ENSP00000352551.6:p.Ser282Thr
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.569G>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.845G>C
  hgvsp: ENSP00000381698.2:p.Ser282Thr
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.870G>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.468G>C
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 520
genotype depth: GenotypeDepth
  all individuals: 19670
  bin: 2.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 15784
  bin: 2.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10555
  bin: 3.25e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.75e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 4.25e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 1379
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 517
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 446
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6971
  bin: 9.75e1
  variant carriers: 6638
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8362
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39628
  bin: 6.25e1
  variant carriers: 3
hgvs: p.Ser282Thr
num of homozygotes: 238
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-145154261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154261
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154261
    reference: chr 8
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.866C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.464C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.565C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.841C>T
  hgvsp: ENSP00000352551.6:p.Arg281Cys
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.841C>T
  hgvsp: ENSP00000381698.2:p.Arg281Cys
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg281Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-145154265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154265
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154265
    reference: chr 8
allele count: 1
allele frequency: 8.337224037884346e-6
allele num: 119944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.862T>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.837T>C
  hgvsp: ENST00000398712.2:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.460T>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.561T>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.837T>C
  hgvsp: ENST00000359551.6:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro279Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

8-145154266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154266
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154266
    reference: chr 8
allele count: 1
allele frequency: 8.337224037884346e-6
allele num: 119944
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.836C>T
  hgvsp: ENSP00000381698.2:p.Pro279Leu
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.560C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.459C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.836C>T
  hgvsp: ENSP00000352551.6:p.Pro279Leu
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.861C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro279Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-145154272-C-CTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154272
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154275
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 119884
alternate allele: CTTG
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.829_830insCAA
  hgvsp: ENSP00000352551.6:p.Cys277delinsSerSer
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.553_554insCAA
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.829_830insCAA
  hgvsp: ENSP00000381698.2:p.Cys277delinsSerSer
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.452_453insCAA
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.854_855insCAA
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys277delinsSerSer
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

8-145154274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154274
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154274
    reference: chr 8
allele count: 2
allele frequency: 1.669839361453428e-5
allele num: 119772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.828G>A
  hgvsp: ENST00000359551.6:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.552G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.828G>A
  hgvsp: ENST00000398712.2:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.853G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.451G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu276Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

8-145154276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154276
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154276
    reference: chr 8
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.550C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.851C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.826C>T
  hgvsp: ENST00000398712.2:c.826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.449C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.826C>T
  hgvsp: ENST00000359551.6:c.826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu276Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

8-145154278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154278
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154278
    reference: chr 8
allele count: 4
allele frequency: 3.342692873378794e-5
allele num: 119664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.548G>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.824G>C
  hgvsp: ENSP00000352551.6:p.Cys275Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.447G>C
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.824G>C
  hgvsp: ENSP00000381698.2:p.Cys275Ser
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.849G>C
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys275Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-145154278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154278
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154278
    reference: chr 8
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.824G>A
  hgvsp: ENSP00000381698.2:p.Cys275Tyr
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.824G>A
  hgvsp: ENSP00000352551.6:p.Cys275Tyr
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.447G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.849G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.548G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys275Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

8-145154281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154281
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154281
    reference: chr 8
allele count: 2
allele frequency: 1.672184876759975e-5
allele num: 119604
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.821G>A
  hgvsp: ENSP00000381698.2:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.545G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.821G>A
  hgvsp: ENSP00000352551.6:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.444G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.846G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg274Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

8-145154282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154282
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154282
    reference: chr 8
allele count: 337
allele frequency: 2.817490176406655e-3
allele num: 119610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.820C>T
  hgvsp: ENSP00000352551.6:p.Arg274Trp
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.820C>T
  hgvsp: ENSP00000381698.2:p.Arg274Trp
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.845C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.443C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.544C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21257
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 9501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42750
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg274Trp
num of homozygotes: 3
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

8-145154285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154285
    reference: chr 8
allele count: 1
allele frequency: 8.363161944267889e-6
allele num: 119572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.817G>A
  hgvsp: ENSP00000352551.6:p.Gly273Arg
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.440G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.817G>A
  hgvsp: ENSP00000381698.2:p.Gly273Arg
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.541G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.842G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly273Arg
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: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-145154286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154286
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154286
    reference: chr 8
allele count: 4
allele frequency: 3.346104298070971e-5
allele num: 119542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.540C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.816C>T
  hgvsp: ENST00000398712.2:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.816C>T
  hgvsp: ENST00000359551.6:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.439C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.841C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile272Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-145154286-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154286
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154286
    reference: chr 8
allele count: 1
allele frequency: 8.365260745177427e-6
allele num: 119542
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.816C>A
  hgvsp: ENST00000398712.2:c.816C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.439C>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.841C>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.816C>A
  hgvsp: ENST00000359551.6:c.816C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.540C>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21310
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile272Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-145154295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154295
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154295
    reference: chr 8
allele count: 14
allele frequency: 1.174279914780829e-4
allele num: 119222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.807C>T
  hgvsp: ENST00000359551.6:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.531C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.832C>T
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.807C>T
  hgvsp: ENST00000398712.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.430C>T
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg269Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

8-145154296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145154296
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145154296
    reference: chr 8
allele count: 2
allele frequency: 1.678640972268851e-5
allele num: 119144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000534242
  gene symbol: SHARPIN
  hgvsc: ENST00000534242.1:n.831G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000381698
  ensembl transcript: ENST00000398712
  gene symbol: SHARPIN
  hgvsc: ENST00000398712.2:c.806G>A
  hgvsp: ENSP00000381698.2:p.Arg269His
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000530216
  gene symbol: SHARPIN
  hgvsc: ENST00000530216.1:n.530G>A
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179526
  ensembl protein: ENSP00000352551
  ensembl transcript: ENST00000359551
  gene symbol: SHARPIN
  hgvsc: ENST00000359551.6:c.806G>A
  hgvsp: ENSP00000352551.6:p.Arg269His
  variant of: http://identifiers.org/hgnc/25321
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179526
  ensembl transcript: ENST00000525275
  gene symbol: SHARPIN
  hgvsc: ENST00000525275.1:n.429G>A
  variant of: http://identifiers.org/hgnc/25321
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg269His
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 31268
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.093613298337708e-4
allele num: 9144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.63e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -2.199e0

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 4.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

DP
type: SiteQuality
SIO_000300: 1.540003e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.921373200442968e-5
allele num: 14448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.538916e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.364e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.756e0

QD
type: SiteQuality
SIO_000300: 1.013e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62982
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.104972375690608e-4
allele num: 9050
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.533946e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.249e0

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.355e0

GenotypeQuality
all individuals: 459
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586898565443697e-5
allele num: 63016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.881e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

FS
type: SiteQuality
SIO_000300: 1.148e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.589e1

MQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.533412e6

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.220594762538837e-3
allele num: 9012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.531984e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

QD
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.597290994473373e-5
allele num: 62606
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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MQ
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 8.824567596187787e-5
allele num: 11332
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East Asian
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African
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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allele num: 6220
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
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variant carriers: 6

Latino
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African
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 9.617234083477592e-5
allele num: 62388
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South Asian
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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East Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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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: 6206
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European (Non-Finnish)
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allele num: 62400
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African
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East Asian
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Other
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South Asian
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Latino
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allele num: 11332
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

South Asian
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European (Non-Finnish)
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East Asian
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Other
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African
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Latino
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allele frequency: 8.818342151675486e-5
allele num: 11340
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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African
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Other
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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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South Asian
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FS
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DP
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 810
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13142
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 1.533118e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.786368422732059e-5
allele num: 62678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.055918151349444e-4
allele num: 11338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13260
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.205e1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.091e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.536632e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8468
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African
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allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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European (Non-Finnish)
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allele count: 17
allele frequency: 2.706575386085018e-4
allele num: 62810
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.242e0

DP
type: SiteQuality
SIO_000300: 1.55298e6

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13418
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.80126738250308e-5
allele num: 11362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.901794145420207e-4
allele num: 8472
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9060
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589067217543302e-5
allele num: 62930
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

DP
type: SiteQuality
SIO_000300: 1.555332e6

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 3.364e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58624409124076e-5
allele num: 63042
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.323e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.081e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 9.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

DP
type: SiteQuality
SIO_000300: 1.56263e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.929962570576667e-5
allele num: 63052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 1.564977e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 2.691e0

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.427292010370022e-4
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13776
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 1.571806e6

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

FS
type: SiteQuality
SIO_000300: 4.324e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.488e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

GenotypeQuality
all individuals: 955
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.155270880005048e-5
allele num: 63386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.507e1

DP
type: SiteQuality
SIO_000300: 1.578215e6

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

FS
type: SiteQuality
SIO_000300: 3.427e0

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.720395254429304e-5
allele num: 63554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.535e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

DP
type: SiteQuality
SIO_000300: 1.591277e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

South Asian
type: Population
allele count: 5
allele frequency: 3.514197357323587e-4
allele num: 14228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 2.991183879093199e-3
allele num: 6352
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East Asian
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allele count: 203
allele frequency: 2.388797364085667e-2
allele num: 8498
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European (Non-Finnish)
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allele count: 27
allele frequency: 4.248355728986374e-4
allele num: 63554
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
allele count: 4
allele frequency: 4.784688995215311e-3
allele num: 836
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QD
type: SiteQuality
SIO_000300: 1.316e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.591277e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
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bin: 9.25e1
variant carriers: 5

European (Finnish)
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allele count: 61
allele frequency: 1.034599728629579e-2
allele num: 5896
num of homozygotes: 0

Latino
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allele frequency: 1.759943681802182e-4
allele num: 11364
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East Asian
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allele frequency: 1.184553423359394e-4
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African
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allele count: 21
allele frequency: 2.413793103448276e-3
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Other
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allele count: 5
allele frequency: 6.188118811881188e-3
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South Asian
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allele count: 1
allele frequency: 6.857769853243725e-5
allele num: 14582
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European (Non-Finnish)
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allele count: 116
allele frequency: 1.872780109783662e-3
allele num: 61940
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.29139e2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.126e0

DP
type: SiteQuality
SIO_000300: 1.615478e6

GenotypeQuality
all individuals: 500
bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Other
type: Population
allele count: 0
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South Asian
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allele frequency: 6.814774430966335e-5
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East Asian
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allele frequency: 0.0e0
allele num: 8518
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63814
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African
type: Population
allele count: 0
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allele num: 9250
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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East Asian
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African
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allele count: 0
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Other
type: Population
allele count: 1
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Latino
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allele num: 11400
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63336
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European (Finnish)
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allele count: 1
allele frequency: 1.635055591890124e-4
allele num: 6116
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DP
type: SiteQuality
SIO_000300: 1.598331e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
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variant carriers: 0

African
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South Asian
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.253517603652055e-5
allele num: 63964
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European (Finnish)
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East Asian
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allele num: 8528
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Other
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Latino
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allele num: 11440
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
SIO_000300: 6.38e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544163063619518e-5
allele num: 64760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.774e1

DP
type: SiteQuality
SIO_000300: 1.639643e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.191e0

FS
type: SiteQuality
SIO_000300: 7.091e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeQuality
all individuals: 1199
bin: 9.75e1
variant carriers: 15

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.657481328869431e-4
allele num: 15532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64828
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.921e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.119e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.642007e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

GenotypeQuality
all individuals: 1185
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.07815433865854e-5
allele num: 64974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.395497569710924e-5
allele num: 15636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.781e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.183e1

DP
type: SiteQuality
SIO_000300: 1.646686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

GenotypeQuality
all individuals: 2643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526204938799182e-5
allele num: 65522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 3.287e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 1.671877e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523739867129884e-5
allele num: 65628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.82e-1

DP
type: SiteQuality
SIO_000300: 1.675358e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.006e1

GenotypeQuality
all individuals: 515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65672
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.677248e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9208
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.040437823046519e-5
allele num: 65780
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.366e0

DP
type: SiteQuality
SIO_000300: 1.682192e6

FS
type: SiteQuality
SIO_000300: 8.217000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
SIO_000300: 1.094e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.037344398340249e-4
allele num: 9640
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.682803e6

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

GenotypeQuality
all individuals: 1222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.75e1
variant carriers: 108

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034440904263389e-5
allele num: 65910
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 107
allele frequency: 6.486420950533462e-3
allele num: 16496
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.688421e6

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515840533575868e-5
allele num: 65970
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.686557e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

GenotypeQuality
all individuals: 1205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41495
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9250
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.362e1

FS
type: SiteQuality
SIO_000300: 9.04e-1

DP
type: SiteQuality
SIO_000300: 1.686996e6

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
all individuals: 515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 32
allele frequency: 1.938454082868912e-3
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.688899e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.255e1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.985e0

DP
type: SiteQuality
SIO_000300: 1.688545e6

FS
type: SiteQuality
SIO_000300: 7.949e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.777e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

QD
type: SiteQuality
SIO_000300: 7.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
all individuals: 9275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.764e0

QD
type: SiteQuality
SIO_000300: 1.184e1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

DP
type: SiteQuality
SIO_000300: 1.688736e6

GenotypeQuality
all individuals: 508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 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: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.022e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.596e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.689179e6

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
all individuals: 508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 1.689999e6

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 1.286e0

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 1241
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 41720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
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: 39
allele frequency: 4.535938590369853e-3
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.692387e6

FS
type: SiteQuality
SIO_000300: 1.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.504e0

QD
type: SiteQuality
SIO_000300: 1.1e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 9307
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 508
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.545347538707633e-5
allele num: 66266
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02880658436214e-4
allele num: 9720
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: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.692203e6

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.339e0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41810
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 12
allele frequency: 1.038062283737024e-3
allele num: 11560
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: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.716e0

FS
type: SiteQuality
SIO_000300: 2.432e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 1.693425e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

GenotypeQuality
all individuals: 41803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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: 8610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.767e1

DP
type: SiteQuality
SIO_000300: 1.693172e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.427e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.03e-1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40402
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 359
bin: 8.75e1
variant carriers: 3

Latino
type: Population
allele count: 173
allele frequency: 1.496539792387543e-2
allele num: 11560
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3060
allele frequency: 4.611628537842481e-2
allele num: 66354
num of homozygotes: 72

European (Finnish)
type: Population
allele count: 253
allele frequency: 3.837985436893204e-2
allele num: 6592
num of homozygotes: 6

African
type: Population
allele count: 59
allele frequency: 6.063720452209661e-3
allele num: 9730
num of homozygotes: 0

South Asian
type: Population
allele count: 51
allele frequency: 3.088662790697674e-3
allele num: 16512
num of homozygotes: 3

Other
type: Population
allele count: 19
allele frequency: 2.130044843049327e-2
allele num: 892
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 1.85818e6

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42313
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.534886524608939e-5
allele num: 66358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 1.746e0

QD
type: SiteQuality
SIO_000300: 1.731e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.017e0

DP
type: SiteQuality
SIO_000300: 1.714134e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.618e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -1.866e-1

GenotypeQuality
all individuals: 2551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 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: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

FS
type: SiteQuality
SIO_000300: 1.5782e1

QD
type: SiteQuality
SIO_000300: 1.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.714174e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -2.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

GenotypeQuality
all individuals: 1140
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013046491307361e-5
allele num: 66378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.714983e6

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.67e-1

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

GenotypeQuality
all individuals: 2549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1140
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.153e1

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

FS
type: SiteQuality
SIO_000300: 1.0323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.714917e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.71509e6

FS
type: SiteQuality
SIO_000300: 1.064e0

QD
type: SiteQuality
SIO_000300: 1.443e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.465e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
all individuals: 374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01313727853441e-5
allele num: 66376
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.418e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.446e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.715295e6

GenotypeQuality
all individuals: 1594
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 594
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2000
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 374
allele frequency: 5.671822869275098e-2
allele num: 6594
num of homozygotes: 9

Other
type: Population
allele count: 67
allele frequency: 7.494407158836688e-2
allele num: 894
num of homozygotes: 4

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 392
allele frequency: 3.391590240526043e-2
allele num: 11558
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 5347
allele frequency: 8.058050515401773e-2
allele num: 66356
num of homozygotes: 205

African
type: Population
allele count: 126
allele frequency: 1.294431888226834e-2
allele num: 9734
num of homozygotes: 3

South Asian
type: Population
allele count: 598
allele frequency: 3.633932912007778e-2
allele num: 16456
num of homozygotes: 12

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 1.095e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.465e0

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 1.993587e6

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

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43637
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.177e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 1.720932e6

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

FS
type: SiteQuality
SIO_000300: 1.203e0

DP
type: SiteQuality
SIO_000300: 1.716248e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

VQSLOD
type: SiteQuality
SIO_000300: -1.234e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.437e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.677e1

GenotypeQuality
all individuals: 404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 789
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.9e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.155e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

DP
type: SiteQuality
SIO_000300: 1.716127e6

QD
type: SiteQuality
SIO_000300: 3.252e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

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

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.714993e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 5.7698e1

MQ
type: SiteQuality
SIO_000300: 5.618e1

MQRankSum
type: SiteQuality
SIO_000300: -2.708e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.918e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.626e0

QD
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
all individuals: 9609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023431594860166e-5
allele num: 66150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.713847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 4.786e0

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9598
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

FS
type: SiteQuality
SIO_000300: 1.095e1

MQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 5.63e0

DP
type: SiteQuality
SIO_000300: 1.711575e6

GenotypeQuality
all individuals: 42763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9573
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.469440671687863e-4
allele num: 16198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 1.438e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.711775e6

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.071e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 1872
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.711775e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

FS
type: SiteQuality
SIO_000300: 1.438e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.709878e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

FS
type: SiteQuality
SIO_000300: 1.011e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: -5.74e-1

QD
type: SiteQuality
SIO_000300: 2.597e1

GenotypeQuality
all individuals: 684
bin: 9.75e1
variant carriers: 334

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

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 294
allele frequency: 3.416221240994655e-2
allele num: 8606
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.177100668704045e-4
allele num: 66098
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.177924217462932e-4
allele num: 9712
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 8.04355896547457e-4
allele num: 16162
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

DP
type: SiteQuality
SIO_000300: 1.723749e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.196554715578138e-5
allele num: 16138
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

QD
type: SiteQuality
SIO_000300: 1.513e1

DP
type: SiteQuality
SIO_000300: 1.707903e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.822e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.54063871651279e-5
allele num: 66070
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

DP
type: SiteQuality
SIO_000300: 1.707211e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42873
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1168
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.707211e6

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.75e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032048755343986e-5
allele num: 65962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.237368529593731e-3
allele num: 9698
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.697281e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.415e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

GenotypeQuality
all individuals: 656
bin: 8.25e1
variant carriers: 0