19-15383897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15383897
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 15383897
    reference: chr 19
allele count: 2
allele frequency: 1.754109000333281e-5
allele num: 114018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141867
  ensembl protein: ENSP00000470481
  ensembl transcript: ENST00000594841
  gene symbol: BRD4
  hgvsc: ENST00000594841.1:c.14G>A
  hgvsp: ENSP00000470481.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/13575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141867
  ensembl protein: ENSP00000263377
  ensembl transcript: ENST00000263377
  gene symbol: BRD4
  hgvsc: ENST00000263377.2:c.14G>A
  hgvsp: ENSP00000263377.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/13575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141867
  ensembl protein: ENSP00000353112
  ensembl transcript: ENST00000360016
  gene symbol: BRD4
  hgvsc: ENST00000360016.5:c.14G>A
  hgvsp: ENSP00000353112.4:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/13575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141867
  ensembl protein: ENSP00000360901
  ensembl transcript: ENST00000371835
  gene symbol: BRD4
  hgvsc: ENST00000371835.4:c.14G>A
  hgvsp: ENSP00000360901.3:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/13575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141867
  ensembl protein: ENSP00000471240
  ensembl transcript: ENST00000601941
  gene symbol: BRD4
  hgvsc: ENST00000601941.1:c.14G>A
  hgvsp: ENSP00000471240.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/13575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141867
  ensembl protein: ENSP00000470108
  ensembl transcript: ENST00000597315
  gene symbol: BRD4
  hgvsc: ENST00000597315.1:c.14G>A
  hgvsp: ENSP00000470108.1:p.Ser5Asn
  variant of: http://identifiers.org/hgnc/13575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser5Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-5433802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433802
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433802
    reference: chr 17
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3519A>G
  hgvsp: ENST00000572272.1:c.3519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3429A>G
  hgvsp: ENST00000354411.3:c.3429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3531A>G
  hgvsp: ENST00000262467.5:c.3531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*365A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3885A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3531A>G
  hgvsp: ENST00000544378.2:c.3531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3519A>G
  hgvsp: ENST00000269280.4:c.3519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3519A>G
  hgvsp: ENST00000345221.3:c.3519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3429A>G
  hgvsp: ENST00000577119.1:c.3429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: c.3519A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-5433803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433803
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433803
    reference: chr 17
allele count: 125
allele frequency: 1.030825815177055e-3
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3518A>G
  hgvsp: ENSP00000269280.4:p.Gln1173Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3428A>G
  hgvsp: ENSP00000346390.3:p.Gln1143Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3530A>G
  hgvsp: ENSP00000262467.5:p.Gln1177Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3518A>G
  hgvsp: ENSP00000460475.1:p.Gln1173Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3518A>G
  hgvsp: ENSP00000324366.3:p.Gln1173Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3530A>G
  hgvsp: ENSP00000442029.2:p.Gln1177Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*364A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3884A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3428A>G
  hgvsp: ENSP00000460216.1:p.Gln1143Arg
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21983
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1173Arg
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-5433804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433804
    reference: chr 17
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3517C>T
  hgvsp: ENSP00000460475.1:p.Gln1173Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3517C>T
  hgvsp: ENSP00000269280.4:p.Gln1173Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*363C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3529C>T
  hgvsp: ENSP00000262467.5:p.Gln1177Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3517C>T
  hgvsp: ENSP00000324366.3:p.Gln1173Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3427C>T
  hgvsp: ENSP00000460216.1:p.Gln1143Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3883C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3529C>T
  hgvsp: ENSP00000442029.2:p.Gln1177Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3427C>T
  hgvsp: ENSP00000346390.3:p.Gln1143Ter
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln1173Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-5433810-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433810
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3511G>C
  hgvsp: ENSP00000324366.3:p.Ala1171Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3523G>C
  hgvsp: ENSP00000262467.5:p.Ala1175Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3511G>C
  hgvsp: ENSP00000269280.4:p.Ala1171Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3421G>C
  hgvsp: ENSP00000460216.1:p.Ala1141Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3511G>C
  hgvsp: ENSP00000460475.1:p.Ala1171Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3523G>C
  hgvsp: ENSP00000442029.2:p.Ala1175Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3421G>C
  hgvsp: ENSP00000346390.3:p.Ala1141Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*357G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3877G>C
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8142
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1171Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-5433818-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433818
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3869A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3413A>G
  hgvsp: ENSP00000460216.1:p.His1138Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3503A>G
  hgvsp: ENSP00000269280.4:p.His1168Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3515A>G
  hgvsp: ENSP00000442029.2:p.His1172Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3503A>G
  hgvsp: ENSP00000460475.1:p.His1168Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*349A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3515A>G
  hgvsp: ENSP00000262467.5:p.His1172Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3503A>G
  hgvsp: ENSP00000324366.3:p.His1168Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3413A>G
  hgvsp: ENSP00000346390.3:p.His1138Arg
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His1168Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-5433822-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433822
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433822
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3499C>G
  hgvsp: ENSP00000324366.3:p.Pro1167Ala
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3499C>G
  hgvsp: ENSP00000460475.1:p.Pro1167Ala
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3511C>G
  hgvsp: ENSP00000262467.5:p.Pro1171Ala
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3511C>G
  hgvsp: ENSP00000442029.2:p.Pro1171Ala
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3409C>G
  hgvsp: ENSP00000346390.3:p.Pro1137Ala
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*345C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3865C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3499C>G
  hgvsp: ENSP00000269280.4:p.Pro1167Ala
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3409C>G
  hgvsp: ENSP00000460216.1:p.Pro1137Ala
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1167Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

17-5433825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433825
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433825
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3508C>T
  hgvsp: ENSP00000442029.2:p.Leu1170Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3496C>T
  hgvsp: ENSP00000269280.4:p.Leu1166Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3862C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3508C>T
  hgvsp: ENSP00000262467.5:p.Leu1170Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3496C>T
  hgvsp: ENSP00000324366.3:p.Leu1166Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3496C>T
  hgvsp: ENSP00000460475.1:p.Leu1166Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3406C>T
  hgvsp: ENSP00000460216.1:p.Leu1136Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*342C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3406C>T
  hgvsp: ENSP00000346390.3:p.Leu1136Phe
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1166Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-5433834-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433834
    reference: chr 17
allele count: 7
allele frequency: 5.766917664892653e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3487G>T
  hgvsp: ENSP00000324366.3:p.Ala1163Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3853G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3487G>T
  hgvsp: ENSP00000269280.4:p.Ala1163Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3499G>T
  hgvsp: ENSP00000262467.5:p.Ala1167Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3397G>T
  hgvsp: ENSP00000346390.3:p.Ala1133Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*333G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3487G>T
  hgvsp: ENSP00000460475.1:p.Ala1163Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3499G>T
  hgvsp: ENSP00000442029.2:p.Ala1167Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3397G>T
  hgvsp: ENSP00000460216.1:p.Ala1133Ser
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1163Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

17-5433841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433841
    reference: chr 17
allele count: 5823
allele frequency: 4.797172609240098e-2
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3492T>C
  hgvsp: ENST00000262467.5:c.3492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3390T>C
  hgvsp: ENST00000577119.1:c.3390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3480T>C
  hgvsp: ENST00000345221.3:c.3480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3846T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3492T>C
  hgvsp: ENST00000544378.2:c.3492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3480T>C
  hgvsp: ENST00000269280.4:c.3480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3480T>C
  hgvsp: ENST00000572272.1:c.3480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*326T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3390T>C
  hgvsp: ENST00000354411.3:c.3390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 2.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 536
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.75e1
  variant carriers: 601
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 315
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 449
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 549
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 748
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 5
hgvs: p.Ala1160Ala
num of homozygotes: 172
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-5433844-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433844
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*323A>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3387A>C
  hgvsp: ENST00000577119.1:c.3387A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3387A>C
  hgvsp: ENST00000354411.3:c.3387A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3489A>C
  hgvsp: ENST00000262467.5:c.3489A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3477A>C
  hgvsp: ENST00000269280.4:c.3477A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3843A>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3477A>C
  hgvsp: ENST00000345221.3:c.3477A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3477A>C
  hgvsp: ENST00000572272.1:c.3477A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3489A>C
  hgvsp: ENST00000544378.2:c.3489A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7477
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1159Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-5433850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433850
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3471G>A
  hgvsp: ENST00000269280.4:c.3471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3381G>A
  hgvsp: ENST00000577119.1:c.3381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3381G>A
  hgvsp: ENST00000354411.3:c.3381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3471G>A
  hgvsp: ENST00000572272.1:c.3471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3471G>A
  hgvsp: ENST00000345221.3:c.3471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3483G>A
  hgvsp: ENST00000544378.2:c.3483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*317G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3837G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3483G>A
  hgvsp: ENST00000262467.5:c.3483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7488
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1157Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-5433855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433855
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433855
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3466G>C
  hgvsp: ENSP00000324366.3:p.Ala1156Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3832G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3376G>C
  hgvsp: ENSP00000346390.3:p.Ala1126Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*312G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3478G>C
  hgvsp: ENSP00000442029.2:p.Ala1160Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3478G>C
  hgvsp: ENSP00000262467.5:p.Ala1160Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3466G>C
  hgvsp: ENSP00000460475.1:p.Ala1156Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3376G>C
  hgvsp: ENSP00000460216.1:p.Ala1126Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3466G>C
  hgvsp: ENSP00000269280.4:p.Ala1156Pro
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1156Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-5433857-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433857
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3476A>G
  hgvsp: ENSP00000262467.5:p.Lys1159Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*310A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3464A>G
  hgvsp: ENSP00000324366.3:p.Lys1155Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3374A>G
  hgvsp: ENSP00000346390.3:p.Lys1125Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3476A>G
  hgvsp: ENSP00000442029.2:p.Lys1159Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3830A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3464A>G
  hgvsp: ENSP00000460475.1:p.Lys1155Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3464A>G
  hgvsp: ENSP00000269280.4:p.Lys1155Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3374A>G
  hgvsp: ENSP00000460216.1:p.Lys1125Arg
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1155Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-5433868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433868
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433868
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3819G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3465G>A
  hgvsp: ENST00000262467.5:c.3465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3453G>A
  hgvsp: ENST00000269280.4:c.3453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*299G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3453G>A
  hgvsp: ENST00000572272.1:c.3453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3465G>A
  hgvsp: ENST00000544378.2:c.3465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3363G>A
  hgvsp: ENST00000577119.1:c.3363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3363G>A
  hgvsp: ENST00000354411.3:c.3363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3453G>A
  hgvsp: ENST00000345221.3:c.3453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1151Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-5433874-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433874
    reference: chr 17
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3813G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3459G>T
  hgvsp: ENST00000262467.5:c.3459G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3447G>T
  hgvsp: ENST00000269280.4:c.3447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3357G>T
  hgvsp: ENST00000354411.3:c.3357G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3447G>T
  hgvsp: ENST00000345221.3:c.3447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3459G>T
  hgvsp: ENST00000544378.2:c.3459G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3357G>T
  hgvsp: ENST00000577119.1:c.3357G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3447G>T
  hgvsp: ENST00000572272.1:c.3447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*293G>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1149Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

17-5433882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433882
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3439G>A
  hgvsp: ENSP00000324366.3:p.Val1147Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3451G>A
  hgvsp: ENSP00000442029.2:p.Val1151Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3805G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3439G>A
  hgvsp: ENSP00000269280.4:p.Val1147Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*285G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3439G>A
  hgvsp: ENSP00000460475.1:p.Val1147Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3349G>A
  hgvsp: ENSP00000460216.1:p.Val1117Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3451G>A
  hgvsp: ENSP00000262467.5:p.Val1151Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3349G>A
  hgvsp: ENSP00000346390.3:p.Val1117Met
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1147Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-5433886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433886
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*281G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3435G>A
  hgvsp: ENSP00000460475.1:p.Trp1145Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3345G>A
  hgvsp: ENSP00000460216.1:p.Trp1115Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3435G>A
  hgvsp: ENSP00000269280.4:p.Trp1145Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3447G>A
  hgvsp: ENSP00000262467.5:p.Trp1149Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3801G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3447G>A
  hgvsp: ENSP00000442029.2:p.Trp1149Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3435G>A
  hgvsp: ENSP00000324366.3:p.Trp1145Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3345G>A
  hgvsp: ENSP00000346390.3:p.Trp1115Ter
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp1145Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-5433898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433898
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3789A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3333A>G
  hgvsp: ENST00000354411.3:c.3333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3435A>G
  hgvsp: ENST00000262467.5:c.3435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3423A>G
  hgvsp: ENST00000345221.3:c.3423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3333A>G
  hgvsp: ENST00000577119.1:c.3333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*269A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3435A>G
  hgvsp: ENST00000544378.2:c.3435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3423A>G
  hgvsp: ENST00000269280.4:c.3423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3423A>G
  hgvsp: ENST00000572272.1:c.3423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1141Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-5433907-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433907
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3414G>C
  hgvsp: ENSP00000269280.4:p.Glu1138Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*260G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3324G>C
  hgvsp: ENSP00000346390.3:p.Glu1108Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3426G>C
  hgvsp: ENSP00000262467.5:p.Glu1142Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3414G>C
  hgvsp: ENSP00000460475.1:p.Glu1138Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3414G>C
  hgvsp: ENSP00000324366.3:p.Glu1138Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3780G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3426G>C
  hgvsp: ENSP00000442029.2:p.Glu1142Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3324G>C
  hgvsp: ENSP00000460216.1:p.Glu1108Asp
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu1138Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

17-5433907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433907
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3324G>A
  hgvsp: ENST00000577119.1:c.3324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3324G>A
  hgvsp: ENST00000354411.3:c.3324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3414G>A
  hgvsp: ENST00000572272.1:c.3414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3426G>A
  hgvsp: ENST00000262467.5:c.3426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3780G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3414G>A
  hgvsp: ENST00000345221.3:c.3414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3426G>A
  hgvsp: ENST00000544378.2:c.3426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3414G>A
  hgvsp: ENST00000269280.4:c.3414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*260G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1138Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

17-5433920-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433920
    reference: chr 17
allele count: 15
allele frequency: 1.235523779714347e-4
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*247A>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3401A>C
  hgvsp: ENSP00000269280.4:p.Gln1134Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3401A>C
  hgvsp: ENSP00000460475.1:p.Gln1134Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3767A>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3311A>C
  hgvsp: ENSP00000460216.1:p.Gln1104Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3413A>C
  hgvsp: ENSP00000442029.2:p.Gln1138Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3401A>C
  hgvsp: ENSP00000324366.3:p.Gln1134Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3413A>C
  hgvsp: ENSP00000262467.5:p.Gln1138Pro
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3311A>C
  hgvsp: ENSP00000346390.3:p.Gln1104Pro
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln1134Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-5433933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433933
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433933
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3298T>C
  hgvsp: ENSP00000346390.3:p.Cys1100Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3400T>C
  hgvsp: ENSP00000262467.5:p.Cys1134Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3388T>C
  hgvsp: ENSP00000324366.3:p.Cys1130Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*234T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3400T>C
  hgvsp: ENSP00000442029.2:p.Cys1134Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3388T>C
  hgvsp: ENSP00000269280.4:p.Cys1130Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3388T>C
  hgvsp: ENSP00000460475.1:p.Cys1130Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3754T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3298T>C
  hgvsp: ENSP00000460216.1:p.Cys1100Arg
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys1130Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-5433934-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433934
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433934
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3753C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3297C>G
  hgvsp: ENSP00000460216.1:p.Phe1099Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3387C>G
  hgvsp: ENSP00000324366.3:p.Phe1129Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3387C>G
  hgvsp: ENSP00000460475.1:p.Phe1129Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3399C>G
  hgvsp: ENSP00000262467.5:p.Phe1133Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3297C>G
  hgvsp: ENSP00000346390.3:p.Phe1099Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3387C>G
  hgvsp: ENSP00000269280.4:p.Phe1129Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3399C>G
  hgvsp: ENSP00000442029.2:p.Phe1133Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*233C>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1129Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-5433941-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433941
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433941
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3380T>C
  hgvsp: ENSP00000269280.4:p.Ile1127Thr
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3290T>C
  hgvsp: ENSP00000460216.1:p.Ile1097Thr
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3392T>C
  hgvsp: ENSP00000442029.2:p.Ile1131Thr
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3380T>C
  hgvsp: ENSP00000324366.3:p.Ile1127Thr
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3290T>C
  hgvsp: ENSP00000346390.3:p.Ile1097Thr
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3392T>C
  hgvsp: ENSP00000262467.5:p.Ile1131Thr
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3746T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3380T>C
  hgvsp: ENSP00000460475.1:p.Ile1127Thr
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*226T>C
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1127Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

17-5433945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433945
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433945
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3388G>A
  hgvsp: ENSP00000442029.2:p.Glu1130Lys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3286G>A
  hgvsp: ENSP00000346390.3:p.Glu1096Lys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3388G>A
  hgvsp: ENSP00000262467.5:p.Glu1130Lys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*222G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3376G>A
  hgvsp: ENSP00000269280.4:p.Glu1126Lys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3376G>A
  hgvsp: ENSP00000460475.1:p.Glu1126Lys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3742G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3376G>A
  hgvsp: ENSP00000324366.3:p.Glu1126Lys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3286G>A
  hgvsp: ENSP00000460216.1:p.Glu1096Lys
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu1126Lys
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: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

17-5433948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433948
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433948
    reference: chr 17
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3283G>A
  hgvsp: ENSP00000346390.3:p.Val1095Ile
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3373G>A
  hgvsp: ENSP00000269280.4:p.Val1125Ile
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3739G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3385G>A
  hgvsp: ENSP00000262467.5:p.Val1129Ile
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3385G>A
  hgvsp: ENSP00000442029.2:p.Val1129Ile
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3373G>A
  hgvsp: ENSP00000324366.3:p.Val1125Ile
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3283G>A
  hgvsp: ENSP00000460216.1:p.Val1095Ile
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*219G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3373G>A
  hgvsp: ENSP00000460475.1:p.Val1125Ile
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1125Ile
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-5433954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433954
    reference: chr 17
allele count: 8
allele frequency: 6.590328692643546e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3733G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3367G>A
  hgvsp: ENSP00000324366.3:p.Val1123Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*213G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3277G>A
  hgvsp: ENSP00000460216.1:p.Val1093Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3379G>A
  hgvsp: ENSP00000262467.5:p.Val1127Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3379G>A
  hgvsp: ENSP00000442029.2:p.Val1127Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3367G>A
  hgvsp: ENSP00000460475.1:p.Val1123Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3277G>A
  hgvsp: ENSP00000346390.3:p.Val1093Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3367G>A
  hgvsp: ENSP00000269280.4:p.Val1123Met
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val1123Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-5433956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433956
    reference: chr 17
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3275C>T
  hgvsp: ENSP00000346390.3:p.Ala1092Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3365C>T
  hgvsp: ENSP00000269280.4:p.Ala1122Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3377C>T
  hgvsp: ENSP00000442029.2:p.Ala1126Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3731C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3365C>T
  hgvsp: ENSP00000460475.1:p.Ala1122Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*211C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3365C>T
  hgvsp: ENSP00000324366.3:p.Ala1122Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3377C>T
  hgvsp: ENSP00000262467.5:p.Ala1126Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3275C>T
  hgvsp: ENSP00000460216.1:p.Ala1092Val
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1122Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-5433958-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433958
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3273A>C
  hgvsp: ENSP00000346390.3:p.Glu1091Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3375A>C
  hgvsp: ENSP00000262467.5:p.Glu1125Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*209A>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3363A>C
  hgvsp: ENSP00000324366.3:p.Glu1121Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3273A>C
  hgvsp: ENSP00000460216.1:p.Glu1091Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3363A>C
  hgvsp: ENSP00000460475.1:p.Glu1121Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3729A>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3375A>C
  hgvsp: ENSP00000442029.2:p.Glu1125Asp
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3363A>C
  hgvsp: ENSP00000269280.4:p.Glu1121Asp
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu1121Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-5433966-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433966
    reference: chr 17
allele count: 5823
allele frequency: 4.797963152170331e-2
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3355A>G
  hgvsp: ENSP00000460475.1:p.Met1119Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3265A>G
  hgvsp: ENSP00000346390.3:p.Met1089Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3367A>G
  hgvsp: ENSP00000442029.2:p.Met1123Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3721A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3355A>G
  hgvsp: ENSP00000269280.4:p.Met1119Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3265A>G
  hgvsp: ENSP00000460216.1:p.Met1089Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3367A>G
  hgvsp: ENSP00000262467.5:p.Met1123Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3355A>G
  hgvsp: ENSP00000324366.3:p.Met1119Val
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*201A>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21088
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 372
genotype depth: GenotypeDepth
  all individuals: 23376
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 9.75e1
  variant carriers: 2745
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met1119Val
num of homozygotes: 173
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-5433974-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433974
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433974
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3347G>T
  hgvsp: ENSP00000460475.1:p.Cys1116Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3359G>T
  hgvsp: ENSP00000442029.2:p.Cys1120Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3359G>T
  hgvsp: ENSP00000262467.5:p.Cys1120Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3347G>T
  hgvsp: ENSP00000324366.3:p.Cys1116Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*193G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3257G>T
  hgvsp: ENSP00000346390.3:p.Cys1086Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3713G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3347G>T
  hgvsp: ENSP00000269280.4:p.Cys1116Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3257G>T
  hgvsp: ENSP00000460216.1:p.Cys1086Phe
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys1116Phe
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-5433981-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433981
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433981
    reference: chr 17
allele count: 4
allele frequency: 3.298044259753966e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3340G>T
  hgvsp: ENSP00000324366.3:p.Gly1114Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3340G>T
  hgvsp: ENSP00000269280.4:p.Gly1114Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3250G>T
  hgvsp: ENSP00000460216.1:p.Gly1084Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*186G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3250G>T
  hgvsp: ENSP00000346390.3:p.Gly1084Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3352G>T
  hgvsp: ENSP00000442029.2:p.Gly1118Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3340G>T
  hgvsp: ENSP00000460475.1:p.Gly1114Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3706G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3352G>T
  hgvsp: ENSP00000262467.5:p.Gly1118Cys
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1114Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-5433982-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433982
    reference: chr 17
allele count: 7
allele frequency: 5.772053366756271e-5
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3339G>T
  hgvsp: ENST00000269280.4:c.3339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3339G>T
  hgvsp: ENST00000345221.3:c.3339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3339G>T
  hgvsp: ENST00000572272.1:c.3339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3249G>T
  hgvsp: ENST00000577119.1:c.3249G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3351G>T
  hgvsp: ENST00000262467.5:c.3351G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3705G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*185G>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3351G>T
  hgvsp: ENST00000544378.2:c.3351G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3249G>T
  hgvsp: ENST00000354411.3:c.3249G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr1113Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

17-5433983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433983
    reference: chr 17
allele count: 4
allele frequency: 3.298098646130506e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3338C>T
  hgvsp: ENSP00000324366.3:p.Thr1113Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3248C>T
  hgvsp: ENSP00000346390.3:p.Thr1083Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3338C>T
  hgvsp: ENSP00000460475.1:p.Thr1113Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3350C>T
  hgvsp: ENSP00000442029.2:p.Thr1117Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3350C>T
  hgvsp: ENSP00000262467.5:p.Thr1117Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3704C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3248C>T
  hgvsp: ENSP00000460216.1:p.Thr1083Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3338C>T
  hgvsp: ENSP00000269280.4:p.Thr1113Met
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*184C>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1113Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

17-5433986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433986
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433986
    reference: chr 17
allele count: 3
allele frequency: 2.473941153186436e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3335A>G
  hgvsp: ENSP00000269280.4:p.Asn1112Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3335A>G
  hgvsp: ENSP00000460475.1:p.Asn1112Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3335A>G
  hgvsp: ENSP00000324366.3:p.Asn1112Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3245A>G
  hgvsp: ENSP00000460216.1:p.Asn1082Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3701A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3347A>G
  hgvsp: ENSP00000262467.5:p.Asn1116Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3245A>G
  hgvsp: ENSP00000346390.3:p.Asn1082Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3347A>G
  hgvsp: ENSP00000442029.2:p.Asn1116Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*181A>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn1112Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-5433989-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433989
    reference: chr 17
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3332C>G
  hgvsp: ENSP00000460475.1:p.Pro1111Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3332C>G
  hgvsp: ENSP00000269280.4:p.Pro1111Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3332C>G
  hgvsp: ENSP00000324366.3:p.Pro1111Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3344C>G
  hgvsp: ENSP00000262467.5:p.Pro1115Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3242C>G
  hgvsp: ENSP00000460216.1:p.Pro1081Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3242C>G
  hgvsp: ENSP00000346390.3:p.Pro1081Arg
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3698C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*178C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3344C>G
  hgvsp: ENSP00000442029.2:p.Pro1115Arg
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1111Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

17-5433992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433992
    reference: chr 17
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3239G>A
  hgvsp: ENSP00000346390.3:p.Trp1080Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3329G>A
  hgvsp: ENSP00000269280.4:p.Trp1110Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3341G>A
  hgvsp: ENSP00000442029.2:p.Trp1114Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3329G>A
  hgvsp: ENSP00000460475.1:p.Trp1110Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3239G>A
  hgvsp: ENSP00000460216.1:p.Trp1080Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3329G>A
  hgvsp: ENSP00000324366.3:p.Trp1110Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*175G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3695G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3341G>A
  hgvsp: ENSP00000262467.5:p.Trp1114Ter
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp1110Ter
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

17-5433995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433995
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433995
    reference: chr 17
allele count: 2
allele frequency: 1.650628063978344e-5
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3338G>A
  hgvsp: ENSP00000442029.2:p.Arg1113His
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3236G>A
  hgvsp: ENSP00000346390.3:p.Arg1079His
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3338G>A
  hgvsp: ENSP00000262467.5:p.Arg1113His
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3326G>A
  hgvsp: ENSP00000324366.3:p.Arg1109His
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3236G>A
  hgvsp: ENSP00000460216.1:p.Arg1079His
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3326G>A
  hgvsp: ENSP00000269280.4:p.Arg1109His
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*172G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3326G>A
  hgvsp: ENSP00000460475.1:p.Arg1109His
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3692G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1109His
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-5433996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5433996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5433996
    reference: chr 17
allele count: 4
allele frequency: 3.301419610432486e-5
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3235C>T
  hgvsp: ENSP00000346390.3:p.Arg1079Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3325C>T
  hgvsp: ENSP00000269280.4:p.Arg1109Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*171C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3691C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3325C>T
  hgvsp: ENSP00000324366.3:p.Arg1109Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3337C>T
  hgvsp: ENSP00000262467.5:p.Arg1113Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3337C>T
  hgvsp: ENSP00000442029.2:p.Arg1113Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3325C>T
  hgvsp: ENSP00000460475.1:p.Arg1109Cys
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3235C>T
  hgvsp: ENSP00000460216.1:p.Arg1079Cys
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1109Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

17-5434014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434014
    reference: chr 17
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3217C>T
  hgvsp: ENSP00000460216.1:p.Pro1073Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3319C>T
  hgvsp: ENSP00000442029.2:p.Pro1107Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3673C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3319C>T
  hgvsp: ENSP00000262467.5:p.Pro1107Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*153C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3307C>T
  hgvsp: ENSP00000460475.1:p.Pro1103Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3217C>T
  hgvsp: ENSP00000346390.3:p.Pro1073Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3307C>T
  hgvsp: ENSP00000324366.3:p.Pro1103Ser
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3307C>T
  hgvsp: ENSP00000269280.4:p.Pro1103Ser
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro1103Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-5434015-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434015
    reference: chr 17
allele count: 2
allele frequency: 1.655519502019734e-5
allele num: 120808
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3306C>G
  hgvsp: ENSP00000460475.1:p.Phe1102Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3306C>G
  hgvsp: ENSP00000324366.3:p.Phe1102Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3216C>G
  hgvsp: ENSP00000460216.1:p.Phe1072Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3318C>G
  hgvsp: ENSP00000442029.2:p.Phe1106Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3216C>G
  hgvsp: ENSP00000346390.3:p.Phe1072Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3306C>G
  hgvsp: ENSP00000269280.4:p.Phe1102Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3672C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3318C>G
  hgvsp: ENSP00000262467.5:p.Phe1106Leu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*152C>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe1102Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-5434028-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434028
    reference: chr 17
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-4C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-4C>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3297-4C>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-5434029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434029
    reference: chr 17
allele count: 3
allele frequency: 2.49820961644155e-5
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-5C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-5C>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3297-5C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

17-5434031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434031
    reference: chr 17
allele count: 6
allele frequency: 5.001333688983729e-5
allele num: 119968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-7T>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-7T>C
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3297-7T>C
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-5434031-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434031
    reference: chr 17
allele count: 20
allele frequency: 1.667111229661243e-4
allele num: 119968
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-7T>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-7T>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22871
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 20
hgvs: c.3297-7T>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-5434045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434045
    reference: chr 17
allele count: 1
allele frequency: 8.415383320710258e-6
allele num: 118830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-21G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-21G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

17-5434049-CACTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434045
    reference: chr 17
allele count: 1
allele frequency: 8.449085808915476e-6
allele num: 118356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-29_3663-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-29_3207-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-29_3207-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-29_3297-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-29_3297-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-29_3309-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-29_*143-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-29_3309-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-29_3297-26delAAGT
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: CACTT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-5434051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434051
    reference: chr 17
allele count: 1
allele frequency: 8.45337120443633e-6
allele num: 118296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-27G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-27G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18210
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-5434056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434056
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434056
    reference: chr 17
allele count: 1
allele frequency: 8.473283736379196e-6
allele num: 118018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-32A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-32A>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

17-5434058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434058
    reference: chr 17
allele count: 3
allele frequency: 2.550543265715597e-5
allele num: 117622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-34G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-34G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

17-5434060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434060
    reference: chr 17
allele count: 2
allele frequency: 1.703461433633143e-5
allele num: 117408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-36G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-36G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14119
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

17-5434061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434061
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434061
    reference: chr 17
allele count: 6
allele frequency: 5.121813804995476e-5
allele num: 117146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-37C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-37C>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

17-5434069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434069
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434069
    reference: chr 17
allele count: 2
allele frequency: 1.716767669831242e-5
allele num: 116498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-45A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-45A>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15126
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-5434076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5434076
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5434076
    reference: chr 17
allele count: 2
allele frequency: 1.737770440524807e-5
allele num: 115090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3207-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*143-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3297-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3309-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3663-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3309-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3207-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3297-52G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3297-52G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-5436096-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436096
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436096
    reference: chr 17
allele count: 1
allele frequency: 8.949987470017542e-6
allele num: 111732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+46C>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+46C>G
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10239
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

17-5436098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436098
    reference: chr 17
allele count: 1
allele frequency: 8.94470384085583e-6
allele num: 111798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+44C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+44C>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10509
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-5436102-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436103
    reference: chr 17
allele count: 1
allele frequency: 8.958486374142224e-6
allele num: 111626
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+39dupC
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+39dupC
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10404
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

17-5436102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436102
    reference: chr 17
allele count: 2
allele frequency: 1.791697274828445e-5
allele num: 111626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+40G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+40G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18864
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

17-5436103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436103
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436103
    reference: chr 17
allele count: 161
allele frequency: 1.438064954089107e-3
allele num: 111956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+39C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+39C>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16318
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-5436113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436113
    reference: chr 17
allele count: 1
allele frequency: 8.886992997049519e-6
allele num: 112524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+29G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+29G>C
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS

17-5436123-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436123
    reference: chr 17
allele count: 12
allele frequency: 1.058835986305721e-4
allele num: 113332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+19C>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+19C>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17209
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-5436126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436126
    reference: chr 17
allele count: 1
allele frequency: 8.79600309619309e-6
allele num: 113688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+16C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+16C>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-5436132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436132
    reference: chr 17
allele count: 4
allele frequency: 3.495281370150297e-5
allele num: 114440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+10G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+10G>A
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-5436133-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436133
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436133
    reference: chr 17
allele count: 1
allele frequency: 8.732861758798358e-6
allele num: 114510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142+9G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206+9G>C
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

17-5436142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436142
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436142
    reference: chr 17
allele count: 2
allele frequency: 1.726757839480591e-5
allele num: 115824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3308G>A
  hgvsp: ENSP00000442029.2:p.Arg1103Gln
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3662G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3296G>A
  hgvsp: ENSP00000269280.4:p.Arg1099Gln
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*142G>A
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3206G>A
  hgvsp: ENSP00000346390.3:p.Arg1069Gln
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3296G>A
  hgvsp: ENSP00000324366.3:p.Arg1099Gln
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3308G>A
  hgvsp: ENSP00000262467.5:p.Arg1103Gln
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3206G>A
  hgvsp: ENSP00000460216.1:p.Arg1069Gln
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3296G>A
  hgvsp: ENSP00000460475.1:p.Arg1099Gln
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1099Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

17-5436143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436143
    reference: chr 17
allele count: 2
allele frequency: 1.722148552534141e-5
allele num: 116134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3661C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3295C>T
  hgvsp: ENSP00000460475.1:p.Arg1099Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3295C>T
  hgvsp: ENSP00000324366.3:p.Arg1099Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3205C>T
  hgvsp: ENSP00000346390.3:p.Arg1069Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3307C>T
  hgvsp: ENSP00000262467.5:p.Arg1103Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3307C>T
  hgvsp: ENSP00000442029.2:p.Arg1103Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3295C>T
  hgvsp: ENSP00000269280.4:p.Arg1099Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3205C>T
  hgvsp: ENSP00000460216.1:p.Arg1069Ter
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*141C>T
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23446
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1099Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-5436147-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436147
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436147
    reference: chr 17
allele count: 1
allele frequency: 8.539563799081142e-6
allele num: 117102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3291G>C
  hgvsp: ENSP00000460475.1:p.Leu1097Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3657G>C
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3201G>C
  hgvsp: ENSP00000460216.1:p.Leu1067Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3291G>C
  hgvsp: ENSP00000324366.3:p.Leu1097Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3303G>C
  hgvsp: ENSP00000262467.5:p.Leu1101Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3303G>C
  hgvsp: ENSP00000442029.2:p.Leu1101Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3291G>C
  hgvsp: ENSP00000269280.4:p.Leu1097Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3201G>C
  hgvsp: ENSP00000346390.3:p.Leu1067Phe
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*137G>C
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1097Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-5436155-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436155
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436155
    reference: chr 17
allele count: 2
allele frequency: 1.687934643170616e-5
allele num: 118488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3283A>G
  hgvsp: ENSP00000269280.4:p.Lys1095Glu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3283A>G
  hgvsp: ENSP00000324366.3:p.Lys1095Glu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3295A>G
  hgvsp: ENSP00000262467.5:p.Lys1099Glu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3193A>G
  hgvsp: ENSP00000346390.3:p.Lys1065Glu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*129A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3295A>G
  hgvsp: ENSP00000442029.2:p.Lys1099Glu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3283A>G
  hgvsp: ENSP00000460475.1:p.Lys1095Glu
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3649A>G
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3193A>G
  hgvsp: ENSP00000460216.1:p.Lys1065Glu
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys1095Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-5436162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5436162
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 5436162
    reference: chr 17
allele count: 1
allele frequency: 8.382370198997468e-6
allele num: 119298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000262467
  ensembl transcript: ENST00000262467
  gene symbol: NLRP1
  hgvsc: ENST00000262467.5:c.3288C>T
  hgvsp: ENST00000262467.5:c.3288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000269280
  ensembl transcript: ENST00000269280
  gene symbol: NLRP1
  hgvsc: ENST00000269280.4:c.3276C>T
  hgvsp: ENST00000269280.4:c.3276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460475
  ensembl transcript: ENST00000572272
  gene symbol: NLRP1
  hgvsc: ENST00000572272.1:c.3276C>T
  hgvsp: ENST00000572272.1:c.3276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000324366
  ensembl transcript: ENST00000345221
  gene symbol: NLRP1
  hgvsc: ENST00000345221.3:c.3276C>T
  hgvsp: ENST00000345221.3:c.3276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000442029
  ensembl transcript: ENST00000544378
  gene symbol: NLRP1
  hgvsc: ENST00000544378.2:c.3288C>T
  hgvsp: ENST00000544378.2:c.3288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000460216
  ensembl transcript: ENST00000577119
  gene symbol: NLRP1
  hgvsc: ENST00000577119.1:c.3186C>T
  hgvsp: ENST00000577119.1:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000091592
  ensembl transcript: ENST00000571307
  gene symbol: NLRP1
  hgvsc: ENST00000571307.1:n.3642C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000459661
  ensembl transcript: ENST00000571451
  gene symbol: NLRP1
  hgvsc: ENST00000571451.2:c.*122C>T
  variant of: http://identifiers.org/hgnc/14374
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091592
  ensembl protein: ENSP00000346390
  ensembl transcript: ENST00000354411
  gene symbol: NLRP1
  hgvsc: ENST00000354411.3:c.3186C>T
  hgvsp: ENST00000354411.3:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14374
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1092Asp
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1180
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
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: 2
allele frequency: 3.083944982421514e-5
allele num: 64852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.117e0

FS
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.435225e6

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.344e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.655298e6

MQ
type: SiteQuality
SIO_000300: 5.894e1

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

GenotypeQuality
all individuals: 2377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2418
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3462
bin: 9.75e1
variant carriers: 122

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

European (Non-Finnish)
type: Population
allele count: 115
allele frequency: 1.72522427915629e-3
allele num: 66658
num of homozygotes: 2

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

Latino
type: Population
allele count: 6
allele frequency: 5.191209551825575e-4
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
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: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

DP
type: SiteQuality
SIO_000300: 1.658359e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 8130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -1.189e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: -3.339e0

FS
type: SiteQuality
SIO_000300: 1.472e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.656259e6

QD
type: SiteQuality
SIO_000300: 7.87e0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1555
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

DP
type: SiteQuality
SIO_000300: 1.657749e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.659e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.56e0

VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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FS
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ClippingRankSum
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SIO_000300: -4.48e-1

ReadPosRankSum
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DP
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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QD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.65935e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.659731e6

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.595e-1

FS
type: SiteQuality
SIO_000300: 2.249e0

QD
type: SiteQuality
SIO_000300: 1.041e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 5
allele frequency: 4.322268326417704e-4
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 2.702e0

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.463e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 1.66065e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 70
allele frequency: 8.092485549132947e-3
allele num: 8650
num of homozygotes: 1

European (Finnish)
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allele count: 335
allele frequency: 5.069612590799032e-2
allele num: 6608
num of homozygotes: 14

Latino
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allele count: 356
allele frequency: 3.077455048409405e-2
allele num: 11568
num of homozygotes: 6

South Asian
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allele frequency: 2.198667474258026e-2
allele num: 16510
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African
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allele count: 833
allele frequency: 8.004997117047857e-2
allele num: 10406
num of homozygotes: 35

European (Non-Finnish)
type: Population
allele count: 3819
allele frequency: 5.722720052746726e-2
allele num: 66734
num of homozygotes: 108

Other
type: Population
allele count: 47
allele frequency: 5.176211453744493e-2
allele num: 908
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQ
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.87385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
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SIO_000300: -2.006e0

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

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

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

European (Finnish)
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East Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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QD
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VQSLOD
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DP
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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Other
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African
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European (Non-Finnish)
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Latino
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Other
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QD
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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European (Finnish)
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DP
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MQ
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Finnish)
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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MQRankSum
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SIO_000300: -3.66e-1

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7492
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39314
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 15
allele frequency: 9.084302325581395e-4
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 1.862081e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.242e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.841e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 39330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7480
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.448e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 3.918e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.860847e6

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeQuality
all individuals: 1989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2057
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 2.944e0

QD
type: SiteQuality
SIO_000300: 1.434e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.073e0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

DP
type: SiteQuality
SIO_000300: 1.860812e6

GenotypeQuality
all individuals: 1163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2057
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.860765e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.346e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

GenotypeQuality
all individuals: 2057
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39310
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.88e-1

FS
type: SiteQuality
SIO_000300: 8.281000000000001e0

DP
type: SiteQuality
SIO_000300: 1.860733e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e0

QD
type: SiteQuality
SIO_000300: 1.593e1

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7482
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
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variant carriers: 0

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

GenotypeQuality
all individuals: 1162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.860808e6

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7487
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.91085003455425e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.315e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 2.492e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.860994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
all individuals: 39317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7483
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.044e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 2.762e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.860774e6

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 680
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39323
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

FS
type: SiteQuality
SIO_000300: 2.545e0

QD
type: SiteQuality
SIO_000300: 1.211e1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.860633e6

GenotypeQuality
all individuals: 39254
bin: 6.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 7398
bin: 6.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1993
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 5642

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 833
allele frequency: 8.015781370284834e-2
allele num: 10392
num of homozygotes: 35

South Asian
type: Population
allele count: 363
allele frequency: 2.198401162790698e-2
allele num: 16512
num of homozygotes: 5

Latino
type: Population
allele count: 358
allele frequency: 3.092605390463027e-2
allele num: 11576
num of homozygotes: 7

East Asian
type: Population
allele count: 67
allele frequency: 7.747456059204441e-3
allele num: 8648
num of homozygotes: 1

Other
type: Population
allele count: 47
allele frequency: 5.176211453744493e-2
allele num: 908
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 335
allele frequency: 5.065013607499244e-2
allele num: 6614
num of homozygotes: 14

European (Non-Finnish)
type: Population
allele count: 3820
allele frequency: 5.725934586443625e-2
allele num: 66714
num of homozygotes: 108

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

QD
type: SiteQuality
SIO_000300: 1.418e1

DP
type: SiteQuality
SIO_000300: 2.041732e6

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2266
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variant carriers: 0

GenotypeQuality
all individuals: 8339
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.123e0

DP
type: SiteQuality
SIO_000300: 1.655395e6

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e0

GenotypeQuality
all individuals: 42609
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 644
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GenotypeQuality
all individuals: 1230
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 4.899e0

QD
type: SiteQuality
SIO_000300: 1.081e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.654646e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.842e0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2184
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2257
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 501
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GenotypeQuality
all individuals: 8321
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.240882103477523e-4
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 1.65531e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2733
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 1221
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42645
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variant carriers: 0

GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 500
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 2257
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.676e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.654552e6

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1220
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GenotypeQuality
all individuals: 42631
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

FS
type: SiteQuality
SIO_000300: 1.0893e1

VQSLOD
type: SiteQuality
SIO_000300: -6.104000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.417e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.654119e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2256
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GenotypeQuality
all individuals: 1
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 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: 11560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.653528e6

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 5.733e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 498
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
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: 10356
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East Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.136e0

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.809e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

FS
type: SiteQuality
SIO_000300: 4.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.652972e6

VQSLOD
type: SiteQuality
SIO_000300: -1.193e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
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SIO_000300: 5.893e1

VQSLOD
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SIO_000300: -4.38e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 1.652344e6

QD
type: SiteQuality
SIO_000300: 1.214e1

FS
type: SiteQuality
SIO_000300: 3.692e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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: 2
allele frequency: 3.00336376741951e-5
allele num: 66592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.652448e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

FS
type: SiteQuality
SIO_000300: 1.1169e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.645274e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012592637223595e-5
allele num: 66388
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.644492e6

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

FS
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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FS
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.28e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.83127823220608e-4
allele num: 16382
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8572
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

QD
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DP
type: SiteQuality
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 5.973e1

ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 5
allele frequency: 4.363763309478094e-4
allele num: 11458
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.83671060397403e-5
allele num: 10166
num of homozygotes: 0

Other
type: Population
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East Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65940
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South Asian
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FS
type: SiteQuality
SIO_000300: 1.651e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
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: 20
allele frequency: 3.033060357901122e-4
allele num: 65940
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.651e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

QD
type: SiteQuality
SIO_000300: 1.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.615385e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532707988474036e-5
allele num: 65244
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 3.038e0

QD
type: SiteQuality
SIO_000300: 9.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

DP
type: SiteQuality
SIO_000300: 1.543773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.982e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
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: 10046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 7.93e0

DP
type: SiteQuality
SIO_000300: 1.481761e6

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 1.296e0

MQ
type: SiteQuality
SIO_000300: 5.625e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.837044892188053e-5
allele num: 11316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.480052e6

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.975e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.194251734390486e-5
allele num: 16144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

DP
type: SiteQuality
SIO_000300: 1.434871e6

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
type: SiteQuality
SIO_000300: 3.174e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.662406815761449e-4
allele num: 11268
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.408403e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.645e0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64412
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 888
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East Asian
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allele count: 1
allele frequency: 1.195600191296031e-4
allele num: 8364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.890469416785207e-5
allele num: 11248
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.395986e6

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.556856395566073e-5
allele num: 64232
num of homozygotes: 0

Latino
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Other
type: Population
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African
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allele num: 9964
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
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DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
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FS
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QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.13302838523717e-5
allele num: 63836
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8294
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.203e0

DP
type: SiteQuality
SIO_000300: 1.345964e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.824151769427216e-4
allele num: 10964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15794
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: 9812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.631e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.337778e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1116
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10446
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.713374e6

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.782e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 1.716135e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.028e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2987
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.602458229306702e-5
allele num: 10414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.254e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.727769e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.904912836767037e-5
allele num: 10096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63872
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.262626262626263e-3
allele num: 792
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.265e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.727769e6

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 162

GenotypeQuality
all individuals: 2204
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variant carriers: 0

GenotypeQuality
all individuals: 19595
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.50385423966363e-4
allele num: 11416
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.975503753457131e-4
allele num: 10124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 143
allele frequency: 2.236052039029272e-3
allele num: 63952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.073140749846343e-4
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 8.500188893086513e-4
allele num: 10588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.375e1

DP
type: SiteQuality
SIO_000300: 1.734465e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.199632014719411e-5
allele num: 10870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64154
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.28e-1

DP
type: SiteQuality
SIO_000300: 1.752827e6

QD
type: SiteQuality
SIO_000300: 1.282e1

FS
type: SiteQuality
SIO_000300: 5.348e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 2239
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.862312992736979e-4
allele num: 64436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.768096e6

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.957e0

FS
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
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GenotypeQuality
all individuals: 715
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GenotypeQuality
all individuals: 40
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54933068914229e-5
allele num: 64544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.702e0

DP
type: SiteQuality
SIO_000300: 1.772798e6

VQSLOD
type: SiteQuality
SIO_000300: -1.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 6.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 232
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10334
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.178369528281487e-5
allele num: 64742
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11998
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.372e0

FS
type: SiteQuality
SIO_000300: 5.286e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.782e6

GenotypeQuality
all individuals: 7291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 3184
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.29324929507381e-5
allele num: 12058
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.224e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

DP
type: SiteQuality
SIO_000300: 1.783334e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.512e0

QD
type: SiteQuality
SIO_000300: 1.52e1

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.726781023025808e-5
allele num: 12942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65090
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.800133e6

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

FS
type: SiteQuality
SIO_000300: 1.514e0

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 279
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65170
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.603406326034063e-5
allele num: 13152
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 8.566000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

MQ
type: SiteQuality
SIO_000300: 5.835e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.803209e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65414
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13798
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 5.968e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.814779e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 10364
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.358511071865236e-4
allele num: 14722
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

QD
type: SiteQuality
SIO_000300: 1.271e1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

DP
type: SiteQuality
SIO_000300: 1.830389e6