3-52512559-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512559
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512559
    reference: chr 3
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1268A>G
  hgvsp: ENSP00000417812.1:p.Lys423Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.323A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1515A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1268A>G
  hgvsp: ENSP00000339958.4:p.Lys423Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1268A>G
  hgvsp: ENSP00000392484.2:p.Lys423Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000464280
  gene symbol: NISCH
  hgvsc: ENST00000464280.1:n.793A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1268A>G
  hgvsp: ENSP00000418232.1:p.Lys423Arg
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys423Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

3-52512561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512561
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512561
    reference: chr 3
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1517G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1270G>A
  hgvsp: ENSP00000339958.4:p.Val424Met
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1270G>A
  hgvsp: ENSP00000418232.1:p.Val424Met
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1270G>A
  hgvsp: ENSP00000417812.1:p.Val424Met
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000464280
  gene symbol: NISCH
  hgvsc: ENST00000464280.1:n.795G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.325G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1270G>A
  hgvsp: ENSP00000392484.2:p.Val424Met
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val424Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52512561-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512561
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512561
    reference: chr 3
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1270G>C
  hgvsp: ENSP00000392484.2:p.Val424Leu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1517G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1270G>C
  hgvsp: ENSP00000339958.4:p.Val424Leu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1270G>C
  hgvsp: ENSP00000418232.1:p.Val424Leu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1270G>C
  hgvsp: ENSP00000417812.1:p.Val424Leu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.325G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000464280
  gene symbol: NISCH
  hgvsc: ENST00000464280.1:n.795G>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val424Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-52512575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512575
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512575
    reference: chr 3
allele count: 6
allele frequency: 4.958595725690485e-5
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000464280
  gene symbol: NISCH
  hgvsc: ENST00000464280.1:n.809C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1284C>T
  hgvsp: ENST00000345716.4:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1531C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1284C>T
  hgvsp: ENST00000420808.2:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1284C>T
  hgvsp: ENST00000488380.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.339C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1284C>T
  hgvsp: ENST00000479054.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe428Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-52512576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512576
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512576
    reference: chr 3
allele count: 3
allele frequency: 2.479584752206831e-5
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.340G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1285G>A
  hgvsp: ENSP00000418232.1:p.Gly429Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1285G>A
  hgvsp: ENSP00000392484.2:p.Gly429Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1285G>A
  hgvsp: ENSP00000339958.4:p.Gly429Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000464280
  gene symbol: NISCH
  hgvsc: ENST00000464280.1:n.810G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1532G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1285G>A
  hgvsp: ENSP00000417812.1:p.Gly429Arg
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly429Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52512599-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512599
    reference: chr 3
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+6C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+6C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+6C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+6C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+6C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000464280
  gene symbol: NISCH
  hgvsc: ENST00000464280.1:n.833C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+6C>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1302+6C>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-52512608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512608
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512608
    reference: chr 3
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+15A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+15A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+15A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+15A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+15A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+15A>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-52512613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512613
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512613
    reference: chr 3
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+20G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+20G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+20G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+20G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+20G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+20G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

3-52512619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512619
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512619
    reference: chr 3
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+26C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+26C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+26C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+26C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+26C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+26C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22250
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

3-52512620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512620
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512620
    reference: chr 3
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+27C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-52512621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512621
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512621
    reference: chr 3
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+28C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+28C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+28C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+28C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+28C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+28C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52512622-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512622
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512622
    reference: chr 3
allele count: 12
allele frequency: 9.974896510448704e-5
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+29A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+29A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+29A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+29A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+29A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+29A>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11180
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52512629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512629
    reference: chr 3
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+36C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-52512630-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512630
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512629
    reference: chr 3
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+39delT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+39delT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+39delT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+39delT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+39delT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+39delT
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

3-52512633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512633
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512633
    reference: chr 3
allele count: 87
allele frequency: 7.255804643714972e-4
allele num: 119904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+40C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+40C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+40C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+40C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+40C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+40C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17333
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5169
  bin: 9.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-52512639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512639
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512639
    reference: chr 3
allele count: 7
allele frequency: 5.842876698607726e-5
allele num: 119804
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+46G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14723
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 2.25e1
  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: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

3-52512645-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52512645
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52512645
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 119560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1302+52A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1549+52A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1302+52A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.357+52A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1302+52A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1302+52A>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5623
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-52513717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513717
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513717
    reference: chr 3
allele count: 1
allele frequency: 1.458023503338874e-5
allele num: 68586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1550-48T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.358-48T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1303-48T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1303-48T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1303-48T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1303-48T>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-52513732-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513732
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513732
    reference: chr 3
allele count: 7
allele frequency: 9.859988168014199e-5
allele num: 70994
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1303-33C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1303-33C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1303-33C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1303-33C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.358-33C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1550-33C>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21717
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52513740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513740
    reference: chr 3
allele count: 1
allele frequency: 1.324187610900712e-5
allele num: 75518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1303-25G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.358-25G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1303-25G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1550-25G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1303-25G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1303-25G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52513752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513752
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513752
    reference: chr 3
allele count: 1
allele frequency: 1.176276848519067e-5
allele num: 85014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1550-13C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1303-13C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1303-13C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1303-13C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.358-13C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1303-13C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24277
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

3-52513759-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513759
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513759
    reference: chr 3
allele count: 1
allele frequency: 1.085870651088042e-5
allele num: 92092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1303-6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.358-6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1303-6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1303-6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1303-6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1550-6C>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1303-6C>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52513760-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513760
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513760
    reference: chr 3
allele count: 21
allele frequency: 2.254041173818775e-4
allele num: 93166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1550-5T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1303-5T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.358-5T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1303-5T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1303-5T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1303-5T>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30235
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1303-5T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-52513809-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513809
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513809
    reference: chr 3
allele count: 2
allele frequency: 1.760315448528376e-5
allele num: 113616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.402T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1347T>G
  hgvsp: ENST00000488380.1:c.1347T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1347T>G
  hgvsp: ENST00000479054.1:c.1347T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1347T>G
  hgvsp: ENST00000345716.4:c.1347T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1594T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1347T>G
  hgvsp: ENST00000420808.2:c.1347T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr449Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

3-52513816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513816
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513816
    reference: chr 3
allele count: 1
allele frequency: 8.762245237719714e-6
allele num: 114126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1601G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1354G>A
  hgvsp: ENSP00000339958.4:p.Val452Met
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1354G>A
  hgvsp: ENSP00000392484.2:p.Val452Met
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1354G>A
  hgvsp: ENSP00000418232.1:p.Val452Met
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.409G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1354G>A
  hgvsp: ENSP00000417812.1:p.Val452Met
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val452Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52513831-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513831
    reference: chr 3
allele count: 15
allele frequency: 1.316667251852112e-4
allele num: 113924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1369C>G
  hgvsp: ENSP00000418232.1:p.Gln457Glu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1369C>G
  hgvsp: ENSP00000392484.2:p.Gln457Glu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1369C>G
  hgvsp: ENSP00000417812.1:p.Gln457Glu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.424C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1616C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1369C>G
  hgvsp: ENSP00000339958.4:p.Gln457Glu
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38876
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln457Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52513841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513841
    reference: chr 3
allele count: 187
allele frequency: 1.654135338345865e-3
allele num: 113050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1379A>G
  hgvsp: ENSP00000392484.2:p.Lys460Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1379A>G
  hgvsp: ENSP00000339958.4:p.Lys460Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1379A>G
  hgvsp: ENSP00000417812.1:p.Lys460Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.434A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1379A>G
  hgvsp: ENSP00000418232.1:p.Lys460Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1626A>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37497
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 9.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44379
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys460Arg
num of homozygotes: 2
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-52513847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513847
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513847
    reference: chr 3
allele count: 1
allele frequency: 8.894106764857605e-6
allele num: 112434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1385T>A
  hgvsp: ENSP00000418232.1:p.Val462Asp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1385T>A
  hgvsp: ENSP00000417812.1:p.Val462Asp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1385T>A
  hgvsp: ENSP00000339958.4:p.Val462Asp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1632T>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.440T>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1385T>A
  hgvsp: ENSP00000392484.2:p.Val462Asp
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36823
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val462Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-52513856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513856
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513856
    reference: chr 3
allele count: 1
allele frequency: 9.026411279403535e-6
allele num: 110786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1394A>G
  hgvsp: ENSP00000418232.1:p.Lys465Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1394A>G
  hgvsp: ENSP00000339958.4:p.Lys465Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1394A>G
  hgvsp: ENSP00000392484.2:p.Lys465Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.449A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1641A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1394A>G
  hgvsp: ENSP00000417812.1:p.Lys465Arg
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys465Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-52513870-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513870
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513867
    reference: chr 3
allele count: 1
allele frequency: 9.333930704898446e-6
allele num: 107136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1661_1663delAAG
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1414_1416delAAG
  hgvsp: ENSP00000339958.4:p.Lys472del
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1414_1416delAAG
  hgvsp: ENSP00000418232.1:p.Lys472del
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.469_471delAAG
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1414_1416delAAG
  hgvsp: ENSP00000392484.2:p.Lys472del
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1414_1416delAAG
  hgvsp: ENSP00000417812.1:p.Lys472del
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys472del
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: GAGA
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-52513896-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513896
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513896
    reference: chr 3
allele count: 1
allele frequency: 1.05358535094928e-5
allele num: 94914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+18G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+18G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+18G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+18G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+18G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+18G>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52513898-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513898
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513898
    reference: chr 3
allele count: 4196
allele frequency: 4.488660676080445e-2
allele num: 93480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+20G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+20G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+20G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+20G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+20G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+20G>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.25e1
  variant carriers: 906
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 7.5e0
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 1.75e1
  variant carriers: 1202
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 2.75e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21814
  bin: 1.25e1
  variant carriers: 894
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 24474
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 3880
genotype quality: GenotypeQuality
  all individuals: 11620
  bin: 6.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.5e0
  variant carriers: 4
num of homozygotes: 95
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-52513899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513899
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513899
    reference: chr 3
allele count: 1
allele frequency: 1.097453906935909e-5
allele num: 91120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+21G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+21G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+21G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+21G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+21G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+21G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23254
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52513905-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513905
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513905
    reference: chr 3
allele count: 1
allele frequency: 1.157568180765847e-5
allele num: 86388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+27C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+27C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+27C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+27C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+27C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+27C>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

3-52513910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513910
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513910
    reference: chr 3
allele count: 1
allele frequency: 1.187281836962458e-5
allele num: 84226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+32G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+32G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+32G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+32G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+32G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+32G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-52513913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513913
    reference: chr 3
allele count: 1
allele frequency: 1.273820442270458e-5
allele num: 78504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+35C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+35C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+35C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+35C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+35C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+35C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

3-52513923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513923
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513923
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 69560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+45C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+45C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+45C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+45C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+45C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+45C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

3-52513924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513924
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513924
    reference: chr 3
allele count: 1
allele frequency: 1.444961419530099e-5
allele num: 69206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+46G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+46G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19387
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-52513926-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52513926
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52513926
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 68580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1416+48G>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1416+48G>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.471+48G>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1663+48G>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1416+48G>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1416+48G>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19912
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-52514151-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514151
    reference: chr 3
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-49C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-49C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-49C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-49C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-49C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-49C>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-52514151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514151
    reference: chr 3
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-49C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-49C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-49C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-49C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-49C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-49C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

3-52514164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514164
    reference: chr 3
allele count: 4459
allele frequency: 3.681716097496532e-2
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.10C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-36C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-36C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 433
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 3.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.25e1
  variant carriers: 466
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 28963
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 9.75e1
  variant carriers: 3913
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 43319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 515
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-52514173-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514173
    reference: chr 3
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-27C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-27C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-27C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-27C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.19C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-27C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-27C>A
  variant of: http://identifiers.org/hgnc/18006
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

3-52514173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514173
    reference: chr 3
allele count: 256
allele frequency: 2.112699303469448e-3
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-27C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.19C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-27C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.75e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 3
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

3-52514174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514174
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514174
    reference: chr 3
allele count: 3
allele frequency: 2.47581949625326e-5
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-26G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.20G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-26G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-26G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-26G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-26G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-26G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
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: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-52514182-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514182
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514182
    reference: chr 3
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.28T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-18T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-18T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-18T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-18T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-18T>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-18T>G
  variant of: http://identifiers.org/hgnc/18006
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52514192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514192
    reference: chr 3
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-8G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-8G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-8G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-8G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-8G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-8G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.38G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1417-8G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum

3-52514195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514195
    reference: chr 3
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-5C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-5C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-5C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-5C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-5C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-5C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.41C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47214
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1417-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

3-52514196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514196
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514196
    reference: chr 3
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.42T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1417-4T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1664-4T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1417-4T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1417-4T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1417-4T>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.472-4T>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1417-4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-52514203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514203
    reference: chr 3
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1667G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1420G>A
  hgvsp: ENSP00000339958.4:p.Gly474Ser
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1420G>A
  hgvsp: ENSP00000418232.1:p.Gly474Ser
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1420G>A
  hgvsp: ENSP00000392484.2:p.Gly474Ser
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.49G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1420G>A
  hgvsp: ENSP00000417812.1:p.Gly474Ser
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.475G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly474Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-52514215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514215
    reference: chr 3
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1432C>T
  hgvsp: ENSP00000339958.4:p.Arg478Trp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1432C>T
  hgvsp: ENSP00000417812.1:p.Arg478Trp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.61C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.487C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1432C>T
  hgvsp: ENSP00000418232.1:p.Arg478Trp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1679C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1432C>T
  hgvsp: ENSP00000392484.2:p.Arg478Trp
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg478Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

3-52514216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514216
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514216
    reference: chr 3
allele count: 4
allele frequency: 3.299077907724791e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1433G>A
  hgvsp: ENSP00000339958.4:p.Arg478Gln
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1680G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1433G>A
  hgvsp: ENSP00000417812.1:p.Arg478Gln
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.62G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.488G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1433G>A
  hgvsp: ENSP00000392484.2:p.Arg478Gln
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1433G>A
  hgvsp: ENSP00000418232.1:p.Arg478Gln
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg478Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/3-52514228-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514228
    reference: chr 3
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1445C>A
  hgvsp: ENSP00000417812.1:p.Ala482Asp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.74C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1445C>A
  hgvsp: ENSP00000392484.2:p.Ala482Asp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1692C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1445C>A
  hgvsp: ENSP00000339958.4:p.Ala482Asp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1445C>A
  hgvsp: ENSP00000418232.1:p.Ala482Asp
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.500C>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala482Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

3-52514229-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514229
    reference: chr 3
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1446C>G
  hgvsp: ENST00000420808.2:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1693C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1446C>G
  hgvsp: ENST00000345716.4:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1446C>G
  hgvsp: ENST00000479054.1:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.75C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1446C>G
  hgvsp: ENST00000488380.1:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.501C>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala482Ala
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-52514234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514234
    reference: chr 3
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1451G>A
  hgvsp: ENSP00000339958.4:p.Cys484Tyr
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.506G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1451G>A
  hgvsp: ENSP00000392484.2:p.Cys484Tyr
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1451G>A
  hgvsp: ENSP00000418232.1:p.Cys484Tyr
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.80G>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1451G>A
  hgvsp: ENSP00000417812.1:p.Cys484Tyr
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1698G>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys484Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-52514235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514235
    reference: chr 3
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1452C>T
  hgvsp: ENST00000488380.1:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1452C>T
  hgvsp: ENST00000420808.2:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1452C>T
  hgvsp: ENST00000345716.4:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1699C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1452C>T
  hgvsp: ENST00000479054.1:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.81C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.507C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys484Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-52514239-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514239
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514239
    reference: chr 3
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1456A>C
  hgvsp: ENST00000420808.2:c.1456A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1456A>C
  hgvsp: ENST00000488380.1:c.1456A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.85A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1456A>C
  hgvsp: ENST00000479054.1:c.1456A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1703A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1456A>C
  hgvsp: ENST00000345716.4:c.1456A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.511A>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg486Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

3-52514243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514243
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514243
    reference: chr 3
allele count: 3
allele frequency: 2.475533477464394e-5
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1460C>G
  hgvsp: ENSP00000417812.1:p.Pro487Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1460C>G
  hgvsp: ENSP00000418232.1:p.Pro487Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.89C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.515C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1460C>G
  hgvsp: ENSP00000392484.2:p.Pro487Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1460C>G
  hgvsp: ENSP00000339958.4:p.Pro487Arg
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1707C>G
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro487Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

3-52514250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514250
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514250
    reference: chr 3
allele count: 9
allele frequency: 7.428929903919173e-5
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1714C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.522C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1467C>T
  hgvsp: ENST00000479054.1:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1467C>T
  hgvsp: ENST00000488380.1:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1467C>T
  hgvsp: ENST00000345716.4:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.96C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1467C>T
  hgvsp: ENST00000420808.2:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser489Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52514252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514252
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514252
    reference: chr 3
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.524C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1469C>T
  hgvsp: ENSP00000392484.2:p.Ser490Phe
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1469C>T
  hgvsp: ENSP00000339958.4:p.Ser490Phe
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1716C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1469C>T
  hgvsp: ENSP00000417812.1:p.Ser490Phe
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1469C>T
  hgvsp: ENSP00000418232.1:p.Ser490Phe
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.98C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser490Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52514269-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514269
    reference: chr 3
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.115C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1486C>A
  hgvsp: ENSP00000418232.1:p.Pro496Thr
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1486C>A
  hgvsp: ENSP00000417812.1:p.Pro496Thr
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1486C>A
  hgvsp: ENSP00000339958.4:p.Pro496Thr
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1733C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.541C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1486C>A
  hgvsp: ENSP00000392484.2:p.Pro496Thr
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro496Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-52514271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514271
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514271
    reference: chr 3
allele count: 333
allele frequency: 2.752111605150499e-3
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1735C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.117C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.543C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1488C>T
  hgvsp: ENST00000488380.1:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1488C>T
  hgvsp: ENST00000345716.4:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1488C>T
  hgvsp: ENST00000420808.2:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1488C>T
  hgvsp: ENST00000479054.1:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31155
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 15179
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro496Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

3-52514272-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514272
    reference: chr 3
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1489G>C
  hgvsp: ENSP00000417812.1:p.Ala497Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1489G>C
  hgvsp: ENSP00000392484.2:p.Ala497Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1489G>C
  hgvsp: ENSP00000418232.1:p.Ala497Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1736G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.544G>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1489G>C
  hgvsp: ENSP00000339958.4:p.Ala497Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.118G>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala497Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-52514273-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514273
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514273
    reference: chr 3
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1490C>A
  hgvsp: ENSP00000392484.2:p.Ala497Glu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1490C>A
  hgvsp: ENSP00000339958.4:p.Ala497Glu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1490C>A
  hgvsp: ENSP00000418232.1:p.Ala497Glu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1490C>A
  hgvsp: ENSP00000417812.1:p.Ala497Glu
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.545C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.119C>A
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1737C>A
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala497Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52514274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514274
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514274
    reference: chr 3
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1738A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.120A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1491A>G
  hgvsp: ENST00000345716.4:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1491A>G
  hgvsp: ENST00000488380.1:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.546A>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1491A>G
  hgvsp: ENST00000420808.2:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1491A>G
  hgvsp: ENST00000479054.1:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8526
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala497Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

3-52514280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514280
    reference: chr 3
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.126C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1497C>T
  hgvsp: ENST00000488380.1:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1497C>T
  hgvsp: ENST00000479054.1:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1497C>T
  hgvsp: ENST00000420808.2:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1497C>T
  hgvsp: ENST00000345716.4:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1744C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.552C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala499Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

3-52514283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514283
    reference: chr 3
allele count: 40
allele frequency: 3.311642077724239e-4
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.555C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1500C>T
  hgvsp: ENST00000345716.4:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1500C>T
  hgvsp: ENST00000479054.1:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1500C>T
  hgvsp: ENST00000420808.2:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1747C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.129C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1500C>T
  hgvsp: ENST00000488380.1:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31406
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser500Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-52514284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514284
    reference: chr 3
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1748C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1501C>T
  hgvsp: ENST00000345716.4:c.1501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.130C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1501C>T
  hgvsp: ENST00000488380.1:c.1501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1501C>T
  hgvsp: ENST00000479054.1:c.1501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1501C>T
  hgvsp: ENST00000420808.2:c.1501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000474188
  gene symbol: NISCH
  hgvsc: ENST00000474188.1:n.556C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu501Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

3-52514301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514301
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514301
    reference: chr 3
allele count: 2
allele frequency: 1.664364296057121e-5
allele num: 120166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1518C>T
  hgvsp: ENST00000488380.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1518C>T
  hgvsp: ENST00000479054.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1765C>T
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1518C>T
  hgvsp: ENST00000420808.2:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1518C>T
  hgvsp: ENST00000345716.4:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.147C>T
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu506Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-52514309-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514309
    reference: chr 3
allele count: 3
allele frequency: 2.512604901254627e-5
allele num: 119398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1526A>C
  hgvsp: ENSP00000392484.2:p.Gln509Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1526A>C
  hgvsp: ENSP00000418232.1:p.Gln509Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.155A>C
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1526A>C
  hgvsp: ENSP00000417812.1:p.Gln509Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1526A>C
  hgvsp: ENSP00000339958.4:p.Gln509Pro
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1773A>C
  variant of: http://identifiers.org/hgnc/18006
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln509Pro
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-52514314-AATCGTGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514307
    reference: chr 3
allele count: 1
allele frequency: 8.421478137842754e-6
allele num: 118744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1528+6_1528+12delCGTGTAT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1534_1540delCGTGTAT
  hgvsp: ENSP00000417812.1:p.Arg512ValfsTer5
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1528+6_1528+12delCGTGTAT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1775+6_1775+12delCGTGTAT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1528+6_1528+12delCGTGTAT
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.157+6_157+12delCGTGTAT
  variant of: http://identifiers.org/hgnc/18006
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg512ValfsTer5
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: AATCGTGT
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-52514317-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52514317
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52514317
    reference: chr 3
allele count: 13
allele frequency: 1.100631593206563e-4
allele num: 118114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000417812
  ensembl transcript: ENST00000488380
  gene symbol: NISCH
  hgvsc: ENST00000488380.1:c.1534C>G
  hgvsp: ENSP00000417812.1:p.Arg512Gly
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000392484
  ensembl transcript: ENST00000420808
  gene symbol: NISCH
  hgvsc: ENST00000420808.2:c.1528+6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000339958
  ensembl transcript: ENST00000345716
  gene symbol: NISCH
  hgvsc: ENST00000345716.4:c.1528+6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000489895
  gene symbol: NISCH
  hgvsc: ENST00000489895.1:n.1775+6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl transcript: ENST00000485765
  gene symbol: NISCH
  hgvsc: ENST00000485765.1:n.157+6C>G
  variant of: http://identifiers.org/hgnc/18006
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010322
  ensembl protein: ENSP00000418232
  ensembl transcript: ENST00000479054
  gene symbol: NISCH
  hgvsc: ENST00000479054.1:c.1528+6C>G
  variant of: http://identifiers.org/hgnc/18006
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14271
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 44757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg512Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

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

GenotypeQuality
all individuals: 30289
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3801
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9697
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.817864e6

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

FS
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

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

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

GenotypeQuality
all individuals: 5187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4761
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30275
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.81701e6

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.81701e6

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 9540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5170
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 236
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4682
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.009615384615385e-5
allele num: 66560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 1.808139e6

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9527
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1335
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.807308e6

QD
type: SiteQuality
SIO_000300: 1.045e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

GenotypeQuality
all individuals: 1627
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 806
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3081
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505842669557885e-5
allele num: 66408
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.874e0

VQSLOD
type: SiteQuality
SIO_000300: -7.433999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 1.0212e1

QD
type: SiteQuality
SIO_000300: 1.004e1

DP
type: SiteQuality
SIO_000300: 1.786253e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8938
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
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: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.432e1

FS
type: SiteQuality
SIO_000300: 1.321e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.529e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.766202e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.749358e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

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

GenotypeQuality
all individuals: 1709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 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: 10284
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.722942e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

GenotypeQuality
all individuals: 8126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5104
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.776e0

VQSLOD
type: SiteQuality
SIO_000300: -1.253e0

FS
type: SiteQuality
SIO_000300: 2.321e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.721772e6

QD
type: SiteQuality
SIO_000300: 6.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

GenotypeQuality
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.009e-1

DP
type: SiteQuality
SIO_000300: 1.72095e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.744e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5111
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 567
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.743679163034002e-4
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35984527982594e-4
allele num: 66184
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

QD
type: SiteQuality
SIO_000300: 1.042e1

FS
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.716207e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

GenotypeQuality
all individuals: 7076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2947
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
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: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.665395e6

VQSLOD
type: SiteQuality
SIO_000300: -1.304e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

FS
type: SiteQuality
SIO_000300: 1.896e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.019e0

QD
type: SiteQuality
SIO_000300: 7.99e0

GenotypeQuality
all individuals: 20929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 2.268e1

DP
type: SiteQuality
SIO_000300: 1.65492e6

MQ
type: SiteQuality
SIO_000300: 6.034e1

GenotypeQuality
all individuals: 2868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.514672686230248e-3
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.031221582297666e-5
allele num: 65980
num of homozygotes: 0

South Asian
type: Population
allele count: 79
allele frequency: 4.837721984078384e-3
allele num: 16330
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.642091e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.115673597763411e-4
allele num: 11446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 1.612467e6

FS
type: SiteQuality
SIO_000300: 2.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 1791
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4351
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6003
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.600002e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 8405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.581844469689146e-5
allele num: 38732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

DP
type: SiteQuality
SIO_000300: 7.9025e5

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1170
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.816860465116279e-4
allele num: 5504
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 9.331259720062209e-4
allele num: 6430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40050
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 2.289e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

QD
type: SiteQuality
SIO_000300: 1.348e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

DP
type: SiteQuality
SIO_000300: 8.57964e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6363
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.358713086140202e-5
allele num: 42396
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.023e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 9.31868e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.434e0

GenotypeQuality
all individuals: 1864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.098988287645355e-5
allele num: 47642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.856e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.797e1

DP
type: SiteQuality
SIO_000300: 1.066486e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.816e0

GenotypeQuality
all individuals: 2343
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31858
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.941672168071143e-5
allele num: 51502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.594e1

FS
type: SiteQuality
SIO_000300: 1.176e0

DP
type: SiteQuality
SIO_000300: 1.15168e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 14107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 478
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 3.68701351904957e-3
allele num: 4882
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.865329512893983e-3
allele num: 698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.920786754254543e-5
allele num: 52062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 1.161711e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
all individuals: 1428
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.310444240597563e-4
allele num: 15262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.390527e6

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.784e0

QD
type: SiteQuality
SIO_000300: 1.045e1

FS
type: SiteQuality
SIO_000300: 2.539e0

GenotypeQuality
all individuals: 3387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582428711586543e-5
allele num: 63194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 1.152e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 1.395866e6

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.762e0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1440
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 14
allele frequency: 9.127656800104316e-4
allele num: 15338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58553987632789e-5
allele num: 63070
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.391941e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

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

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 868
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.312335958005249e-4
allele num: 15240
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 9.361542782250515e-4
allele num: 10682
num of homozygotes: 0

African
type: Population
allele count: 173
allele frequency: 1.878393051031487e-2
allele num: 9210
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598107840317065e-5
allele num: 62574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.143e0

DP
type: SiteQuality
SIO_000300: 1.379705e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605755026013232e-5
allele num: 62276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.286e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.367527e6

GenotypeQuality
all individuals: 990
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.657789613848202e-5
allele num: 15020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -9.993e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.338845e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.275e1

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

GenotypeQuality
all individuals: 1405
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.680728763992067e-5
allele num: 59498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.272025e6

FS
type: SiteQuality
SIO_000300: 1.0746e1

QD
type: SiteQuality
SIO_000300: 1.49e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.06e1

GenotypeQuality
all individuals: 1739
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4770
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.466275659824047e-4
allele num: 6820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52958
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -9.595e-1

DP
type: SiteQuality
SIO_000300: 1.004812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
SIO_000300: 1.695e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 4.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
all individuals: 2131
bin: 3.75e1
variant carriers: 22

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 44

GenotypeQuality
all individuals: 1269
bin: 6.75e1
variant carriers: 23

GenotypeQuality
all individuals: 489
bin: 4.75e1
variant carriers: 30

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 43

GenotypeQuality
all individuals: 311
bin: 7.75e1
variant carriers: 34

GenotypeQuality
all individuals: 4657
bin: 2.75e1
variant carriers: 14

Latino
type: Population
allele count: 198
allele frequency: 2.433628318584071e-2
allele num: 8136
num of homozygotes: 2

Other
type: Population
allele count: 34
allele frequency: 4.843304843304843e-2
allele num: 702
num of homozygotes: 0

African
type: Population
allele count: 85
allele frequency: 1.123150105708245e-2
allele num: 7568
num of homozygotes: 1

South Asian
type: Population
allele count: 173
allele frequency: 1.302710843373494e-2
allele num: 13280
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 355
allele frequency: 7.186234817813765e-2
allele num: 4940
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 3350
allele frequency: 6.426488643339472e-2
allele num: 52128
num of homozygotes: 81

East Asian
type: Population
allele count: 1
allele frequency: 1.486767766874814e-4
allele num: 6726
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.316e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

DP
type: SiteQuality
SIO_000300: 9.9293e5

GenotypeQuality
all individuals: 494
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.977066034005536e-5
allele num: 50580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

FS
type: SiteQuality
SIO_000300: 2.402e0

DP
type: SiteQuality
SIO_000300: 9.47844e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 3446
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5569
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7730
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.0875083500334e-5
allele num: 47904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.0448e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

QD
type: SiteQuality
SIO_000300: 7.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.371e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
all individuals: 1572
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5745
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6274
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.139220468061438e-5
allele num: 46746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

FS
type: SiteQuality
SIO_000300: 4.472e0

DP
type: SiteQuality
SIO_000300: 8.72786e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.489e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.94e0

GenotypeQuality
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5812
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.61178091629349e-5
allele num: 11612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 4.314e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 8.38004e5

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 2.227e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.24e-2

DP
type: SiteQuality
SIO_000300: 7.89498e5

GenotypeQuality
all individuals: 5688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.031694433157253e-4
allele num: 4922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.645e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 7.8602e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 1268
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4186
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10436
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 7.81044e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 8.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.196e-1

GenotypeQuality
all individuals: 193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.816019e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

FS
type: SiteQuality
SIO_000300: 4.331e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.012e0

QD
type: SiteQuality
SIO_000300: 1.243e1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

DP
type: SiteQuality
SIO_000300: 1.816019e6

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 4.331e0

QD
type: SiteQuality
SIO_000300: 1.243e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.012e0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1615
bin: 7.25e1
variant carriers: 4

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

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8024
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 2

South Asian
type: Population
allele count: 46
allele frequency: 2.786865382285229e-3
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 27
allele frequency: 4.088431253785585e-3
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.314368370298939e-3
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 131
allele frequency: 1.967912510515563e-3
allele num: 66568
num of homozygotes: 3

Latino
type: Population
allele count: 2975
allele frequency: 2.578436470792165e-1
allele num: 11538
num of homozygotes: 424

East Asian
type: Population
allele count: 1236
allele frequency: 1.432877347553907e-1
allele num: 8626
num of homozygotes: 88

Other
type: Population
allele count: 20
allele frequency: 2.222222222222222e-2
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.75e0

QD
type: SiteQuality
SIO_000300: 1.649e1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 1.881103e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.854e-1

GenotypeQuality
all individuals: 1700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46717
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8581
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.343e1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 7.03e-1

DP
type: SiteQuality
SIO_000300: 1.732611e6

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

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

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8581
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50558692779046e-5
allele num: 66584
num of homozygotes: 0

East Asian
type: Population
allele count: 245
allele frequency: 2.834335955576122e-2
allele num: 8644
num of homozygotes: 3

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 7.03e-1

DP
type: SiteQuality
SIO_000300: 1.732611e6

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 1.721082e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.721681e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.217e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

GenotypeQuality
all individuals: 562
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8637
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.722459e6

FS
type: SiteQuality
SIO_000300: 1.081e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.812e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.722552e6

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

GenotypeQuality
all individuals: 47233
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

QD
type: SiteQuality
SIO_000300: 1.226e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.722553e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 561
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47263
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 7.979e0

DP
type: SiteQuality
SIO_000300: 1.72298e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.417e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.139e1

MQ
type: SiteQuality
SIO_000300: 5.858e1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.723217e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.01e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 9.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 1.161e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 559
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 1.723479e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.93e1

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

GenotypeQuality
all individuals: 555
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.832e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.46e-1

DP
type: SiteQuality
SIO_000300: 1.723027e6

FS
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

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

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8629
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 9.44e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

DP
type: SiteQuality
SIO_000300: 1.722892e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.742e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.577e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.523e0

QD
type: SiteQuality
SIO_000300: 7.83e0

DP
type: SiteQuality
SIO_000300: 1.722792e6

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.511e0

DP
type: SiteQuality
SIO_000300: 1.72259e6

FS
type: SiteQuality
SIO_000300: 2.615e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

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

GenotypeQuality
all individuals: 1698
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.857e0

FS
type: SiteQuality
SIO_000300: 4.353e0

MQRankSum
type: SiteQuality
SIO_000300: -1.326e0

VQSLOD
type: SiteQuality
SIO_000300: -1.783e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.722284e6

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 11570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 1.722044e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

MQRankSum
type: SiteQuality
SIO_000300: -1.168e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

FS
type: SiteQuality
SIO_000300: 1.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 552
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 8618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.721556e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.045e0

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

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.91e-1

DP
type: SiteQuality
SIO_000300: 1.720661e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.185e0

DP
type: SiteQuality
SIO_000300: 1.715779e6

FS
type: SiteQuality
SIO_000300: 5.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.39e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 46930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.75e1
variant carriers: 333

GenotypeQuality
all individuals: 1664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 15
allele frequency: 1.450957632037145e-3
allele num: 10338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 59
allele frequency: 5.10204081632653e-3
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.029678982434888e-3
allele num: 16510
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 4.464285714285714e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 237
allele frequency: 3.567128236002408e-3
allele num: 66440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.73006e6

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 1.292e0

QD
type: SiteQuality
SIO_000300: 1.282e1

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

GenotypeQuality
all individuals: 8535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 47101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.706475e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.041e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.186e0

QD
type: SiteQuality
SIO_000300: 1.39e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.06e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 2.941e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8535
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
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: 6596
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: 8646
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.434e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.705061e6

FS
type: SiteQuality
SIO_000300: 1.4075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -1.115e0

MQRankSum
type: SiteQuality
SIO_000300: -1.659e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
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: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
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: 6596
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.210000000000001e-2

QD
type: SiteQuality
SIO_000300: 7.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 1.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.704939e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 7.316e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 1.70298e6

GenotypeQuality
all individuals: 1275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
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: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
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: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.033364505716613e-4
allele num: 66298
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.70358e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.363e0

QD
type: SiteQuality
SIO_000300: 1.312e1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
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: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.212e1

DP
type: SiteQuality
SIO_000300: 1.701388e6

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.767e0

FS
type: SiteQuality
SIO_000300: 6.179e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73460537727667e-4
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 3.636e0

QD
type: SiteQuality
SIO_000300: 1.434e1

DP
type: SiteQuality
SIO_000300: 1.689325e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.011e0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.583371528096068e-5
allele num: 65454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

FS
type: SiteQuality
SIO_000300: 2.931e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.67079e6

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

GenotypeQuality
all individuals: 1131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65056
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.969e1

MQRankSum
type: SiteQuality
SIO_000300: -4.875e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 7.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.652598e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.507e0

GenotypeQuality
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.081481939251614e-4
allele num: 64726
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.58378207158695e-4
allele num: 6314
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.987240829346093e-4
allele num: 10032
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.636385e6

QD
type: SiteQuality
SIO_000300: 1.396e1

FS
type: SiteQuality
SIO_000300: 1.583e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3