http://identifiers.org/exac.variant/14-74946938-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946938
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946938
    reference: chr 14
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*383G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.511G>T
  hgvsp: ENSP00000451180.1:p.Ala171Ser
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*39G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*39G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*39G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*39G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+467G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*128G>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala171Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

14-74946941-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946941
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946941
    reference: chr 14
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*380T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+464T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.508T>C
  hgvsp: ENSP00000451180.1:p.Ser170Pro
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*36T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*125T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  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: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser170Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-74946943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946943
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946943
    reference: chr 14
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*34A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+462A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.506A>G
  hgvsp: ENSP00000451180.1:p.Glu169Gly
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*378A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*123A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu169Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

14-74946944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946944
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946944
    reference: chr 14
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*122G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*33G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*377G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.505G>C
  hgvsp: ENSP00000451180.1:p.Glu169Gln
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*33G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*33G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+461G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*33G>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu169Gln
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

14-74946946-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946946
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946946
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+459A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*31A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*120A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.503A>G
  hgvsp: ENSP00000451180.1:p.Asn168Ser
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*375A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn168Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

14-74946947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946947
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946947
    reference: chr 14
allele count: 36
allele frequency: 2.966869952200429e-4
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*119A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+458A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.502A>G
  hgvsp: ENSP00000451180.1:p.Asn168Asp
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*374A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*30A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 44585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn168Asp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-74946948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946948
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946948
    reference: chr 14
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+457C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.501C>T
  hgvsp: ENST00000553490.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*373C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*118C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*29C>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala167Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-74946958-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946958
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946958
    reference: chr 14
allele count: 154
allele frequency: 1.268784603216451e-3
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*363T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*108T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.491T>C
  hgvsp: ENSP00000451180.1:p.Val164Ala
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*19T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+447T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 44440
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10375
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val164Ala
num of homozygotes: 4
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-74946959-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946959
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946959
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.490G>T
  hgvsp: ENSP00000451180.1:p.Val164Leu
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*362G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+446G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*107G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*18G>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val164Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-74946959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946959
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946959
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.490G>A
  hgvsp: ENSP00000451180.1:p.Val164Met
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*362G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*18G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+446G>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val164Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-74946960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946960
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946960
    reference: chr 14
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*361G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+445G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.489G>A
  hgvsp: ENST00000553490.1:c.489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 7.75e1
  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: 6921
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser163Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-74946960-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946960
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946960
    reference: chr 14
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+445G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*17G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*361G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.489G>C
  hgvsp: ENST00000553490.1:c.489G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*106G>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser163Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-74946961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946961
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946961
    reference: chr 14
allele count: 15
allele frequency: 1.235747709747578e-4
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*360C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+444C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*105C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.488C>T
  hgvsp: ENSP00000451180.1:p.Ser163Leu
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43741
  bin: 6.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser163Leu
num of homozygotes: 1
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

14-74946968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946968
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946968
    reference: chr 14
allele count: 97
allele frequency: 7.990905196559792e-4
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*9T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+437T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.481T>C
  hgvsp: ENST00000553490.1:c.481T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*353T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*9T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*98T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*9T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*9T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 44337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu161Leu
num of homozygotes: 1
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-74946971-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946971
    reference: chr 14
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.478T>G
  hgvsp: ENSP00000451180.1:p.Ser160Ala
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*6T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*350T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+434T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*6T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*6T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*6T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*95T>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser160Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

14-74946972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946972
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946972
    reference: chr 14
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*349C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+433C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.477C>T
  hgvsp: ENST00000553490.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala159Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/14-74946975-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946975
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946975
    reference: chr 14
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*346T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.*2T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.474T>G
  hgvsp: ENSP00000451180.1:p.Ser158Arg
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.*2T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.*2T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*91T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+430T>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.*2T>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser158Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

14-74946980-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946980
    reference: chr 14
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*341C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+425C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.469C>G
  hgvsp: ENSP00000451180.1:p.Leu157Val
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.518C>G
  hgvsp: ENST00000556009.1:c.518C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*86C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.375C>G
  hgvsp: ENST00000541064.1:c.375C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.453C>G
  hgvsp: ENST00000555619.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.444C>G
  hgvsp: ENST00000238633.2:c.444C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu157Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

14-74946981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946981
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946981
    reference: chr 14
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.468T>C
  hgvsp: ENST00000553490.1:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.374T>C
  hgvsp: ENSP00000442488.1:p.Leu125Pro
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+424T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.517T>C
  hgvsp: ENSP00000450502.1:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.443T>C
  hgvsp: ENSP00000238633.2:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.452T>C
  hgvsp: ENSP00000451112.1:p.Leu151Pro
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*340T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  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: 4.25e1
  variant carriers: 0
hgvs: p.Leu151Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-74946983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946983
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946983
    reference: chr 14
allele count: 9
allele frequency: 7.41399762752076e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.515T>C
  hgvsp: ENST00000556009.1:c.515T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.450T>C
  hgvsp: ENST00000555619.1:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+422T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.372T>C
  hgvsp: ENST00000541064.1:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.441T>C
  hgvsp: ENST00000238633.2:c.441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.466T>C
  hgvsp: ENSP00000451180.1:p.Ser156Pro
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*83T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*338T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser156Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS

14-74946995-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946995
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946995
    reference: chr 14
allele count: 877
allele frequency: 7.224766863281378e-3
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+410A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-4A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-4A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-4A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-4A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*326A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-4A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-4A>C
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 430
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 858
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: c.442-4A>C
num of homozygotes: 19
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

14-74946995-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946995
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946995
    reference: chr 14
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-4A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+410A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*326A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-4A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-4A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-4A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-4A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-4A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: c.442-4A>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-74946999-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74946999
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74946999
    reference: chr 14
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+406A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*322A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-8A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-8A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-8A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-8A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-8A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-8A>C
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: c.442-8A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-74947002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947002
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947002
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*319T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+403T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-11T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/14-74947009-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947009
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947009
    reference: chr 14
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-18G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+396G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*312G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-18G>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43117
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

14-74947009-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947009
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947009
    reference: chr 14
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-18G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-18G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+396G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*312G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-18G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-18G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-18G>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-18G>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

14-74947015-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947015
    reference: chr 14
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-24T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-24T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-24T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+390T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-24T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-24T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*306T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-24T>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-74947022-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947022
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947022
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*299C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-31C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-31C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-31C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-31C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-31C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+383C>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-31C>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

14-74947027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947027
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947027
    reference: chr 14
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-36A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-36A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-36A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-36A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*294A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+378A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-36A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-36A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

14-74947027-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947027
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947027
    reference: chr 14
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*294A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-36A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-36A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-36A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+378A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-36A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-36A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-36A>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 42892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/14-74947038-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947038
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947038
    reference: chr 14
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-47G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-47G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-47G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-47G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-47G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*283G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+367G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-47G>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42120
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-74947043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947043
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947043
    reference: chr 14
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.442-52T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.458-52T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-52T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.507-52T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*278T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.433-52T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+362T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*75-52T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

14-74947278-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947278
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947278
    reference: chr 14
allele count: 1
allele frequency: 8.371283150281276e-6
allele num: 119456
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+127T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-287T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+136T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+111T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+127T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+127T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+127T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*43T>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

14-74947281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947281
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947281
    reference: chr 14
allele count: 1
allele frequency: 8.369741709770836e-6
allele num: 119478
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+124A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+124A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+108A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+124A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+133A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-290A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+124A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*40A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-74947282-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947282
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947282
    reference: chr 14
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+107A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+123A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+123A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*39A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+123A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-291A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+132A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+123A>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

14-74947286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947286
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947286
    reference: chr 14
allele count: 1
allele frequency: 8.367080558251614e-6
allele num: 119516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*35T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+119T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+103T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+119T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+119T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+119T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-295T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+128T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-74947288-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947288
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947288
    reference: chr 14
allele count: 1
allele frequency: 8.366660531115611e-6
allele num: 119522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-297C>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*33C>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+126C>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+117C>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+101C>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+117C>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+117C>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+117C>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

14-74947293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947293
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947293
    reference: chr 14
allele count: 8
allele frequency: 6.688963210702341e-5
allele num: 119600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+112T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-302T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+121T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+112T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+112T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+112T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+96T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17080
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54012
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-74947312-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947312
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947312
    reference: chr 14
allele count: 2
allele frequency: 1.668529858341815e-5
allele num: 119866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+93G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-321G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+102G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+77G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+93G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+93G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.*9G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+93G>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-74947320-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947320
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947319
    reference: chr 14
allele count: 1
allele frequency: 8.335278231587371e-6
allele num: 119972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+84delA
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+84delA
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+68delA
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+84delA
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.525delA
  hgvsp: ENST00000557510.1:c.525delA(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+93delA
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+84delA
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-330delA
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
hgvs: p.TerTer175TerTer
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: CT
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

14-74947337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947337
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947337
    reference: chr 14
allele count: 454
allele frequency: 3.773271276595744e-3
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+68C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+68C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+68C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+77C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.509C>T
  hgvsp: ENSP00000451206.1:p.Thr170Ile
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+52C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+68C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-346C>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17401
  bin: 9.75e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr170Ile
num of homozygotes: 6
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

14-74947339-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947339
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947339
    reference: chr 14
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+66A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+66A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+66A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-348A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+75A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+50A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+66A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.507A>T
  hgvsp: ENSP00000451206.1:p.Glu169Asp
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu169Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-74947351-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947351
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947351
    reference: chr 14
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+54A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-360A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.495A>C
  hgvsp: ENSP00000451206.1:p.Arg165Ser
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+54A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+54A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+54A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+38A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+63A>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg165Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

14-74947355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947355
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947355
    reference: chr 14
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+59G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+34G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+50G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+50G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.491G>A
  hgvsp: ENSP00000451206.1:p.Arg164Lys
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+50G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+50G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-364G>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg164Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-74947363-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947363
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947363
    reference: chr 14
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+26A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+42A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-372A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+42A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.483A>C
  hgvsp: ENSP00000451206.1:p.Arg161Ser
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+51A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+42A>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+42A>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg161Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

14-74947369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947369
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947369
    reference: chr 14
allele count: 4
allele frequency: 3.303164431525401e-5
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+36G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+20G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.477G>A
  hgvsp: ENST00000557510.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+36G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+36G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-378G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+45G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+36G>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17263
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu159Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

14-74947370-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947370
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947370
    reference: chr 14
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+35A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+35A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+19A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.476A>T
  hgvsp: ENSP00000451206.1:p.Glu159Val
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-379A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+35A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+35A>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+44A>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17261
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu159Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

14-74947371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947371
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947371
    reference: chr 14
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+43G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+34G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-380G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+34G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.475G>A
  hgvsp: ENSP00000451206.1:p.Glu159Lys
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+34G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+34G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+18G>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54066
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu159Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

14-74947375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947375
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947375
    reference: chr 14
allele count: 44
allele frequency: 3.630962204984321e-4
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+30G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+39G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.471G>A
  hgvsp: ENSP00000451206.1:p.Trp157Ter
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+14G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+30G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-384G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+30G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+30G>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17287
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp157Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

14-74947377-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947377
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947377
    reference: chr 14
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-386T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+12T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.469T>A
  hgvsp: ENSP00000451206.1:p.Trp157Arg
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+37T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+28T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+28T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+28T>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+28T>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp157Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-74947378-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947378
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947378
    reference: chr 14
allele count: 9
allele frequency: 7.425742574257426e-5
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+27A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+27A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.468A>G
  hgvsp: ENST00000557510.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+36A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+27A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+11A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+27A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-387A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17287
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala156Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-74947381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947381
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947381
    reference: chr 14
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+24G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.457+8G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+33G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+24G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-390G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.465G>A
  hgvsp: ENST00000557510.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+24G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+24G>A
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  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: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 6.25e1
  variant carriers: 0
hgvs: c.457+8G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

14-74947390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947390
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947390
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-399G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+24G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.456G>A
  hgvsp: ENST00000553490.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+15G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+15G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+15G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+15G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.456G>A
  hgvsp: ENST00000557510.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: c.456G>A
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-74947391-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947391
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947391
    reference: chr 14
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+23G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+14G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+14G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.455G>T
  hgvsp: ENSP00000451180.1:p.Gly152Val
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+14G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+14G>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.455G>T
  hgvsp: ENSP00000451206.1:p.Gly152Val
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-400G>T
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly152Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-74947393-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947393
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947393
    reference: chr 14
allele count: 5
allele frequency: 4.120584793393878e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.453T>C
  hgvsp: ENST00000557510.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.453T>C
  hgvsp: ENST00000553490.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+12T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+12T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+12T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+21T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+12T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-402T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54064
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Ser151Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

14-74947396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947396
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947396
    reference: chr 14
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+9A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-405A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.450A>G
  hgvsp: ENST00000553490.1:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+9A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+9A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.450A>G
  hgvsp: ENST00000557510.1:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+9A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+18A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu150Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

14-74947398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947398
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947398
    reference: chr 14
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+7C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+16C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+7C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+7C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.448C>T
  hgvsp: ENST00000553490.1:c.448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.448C>T
  hgvsp: ENST00000557510.1:c.448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+7C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-407C>T
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: c.441+7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-74947404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947404
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947404
    reference: chr 14
allele count: 441
allele frequency: 3.633457469597601e-3
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441+1G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.442G>A
  hgvsp: ENSP00000451180.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506+1G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441+1G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+10G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74+1G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-413G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.442G>A
  hgvsp: ENSP00000451206.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17574
  bin: 9.75e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  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: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.441+1G>A
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-74947405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947405
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947405
    reference: chr 14
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.441C>T
  hgvsp: ENST00000434013.2:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-414C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.506C>T
  hgvsp: ENST00000556009.1:c.506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.441C>T
  hgvsp: ENST00000555619.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*74C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.441C>T
  hgvsp: ENST00000553490.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.441C>T
  hgvsp: ENST00000557510.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.432+9C>T
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17449
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
hgvs: c.441C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

14-74947422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947422
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947422
    reference: chr 14
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-431G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.424G>A
  hgvsp: ENSP00000412103.2:p.Glu142Lys
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.424G>A
  hgvsp: ENSP00000451180.1:p.Glu142Lys
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.489G>A
  hgvsp: ENSP00000450502.1:p.Glu164Lys
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.424G>A
  hgvsp: ENSP00000451112.1:p.Glu142Lys
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*57G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.424G>A
  hgvsp: ENSP00000451206.1:p.Glu142Lys
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.424G>A
  hgvsp: ENSP00000238633.2:p.Glu142Lys
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17449
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu142Lys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

14-74947423-CCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947423
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947420
    reference: chr 14
allele count: 20
allele frequency: 1.647690761397901e-4
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.485_487delCTG
  hgvsp: ENSP00000450502.1:p.Cys162del
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.420_422delCTG
  hgvsp: ENSP00000451206.1:p.Cys140del
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.420_422delCTG
  hgvsp: ENSP00000451112.1:p.Cys140del
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-435_364-433delCTG
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*53_*55delCTG
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.420_422delCTG
  hgvsp: ENSP00000238633.2:p.Cys140del
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.420_422delCTG
  hgvsp: ENSP00000451180.1:p.Cys140del
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.420_422delCTG
  hgvsp: ENSP00000412103.2:p.Cys140del
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17459
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54069
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys140del
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: CCAG
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

14-74947425-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947425
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947425
    reference: chr 14
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.421T>C
  hgvsp: ENSP00000412103.2:p.Trp141Arg
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.421T>C
  hgvsp: ENSP00000451112.1:p.Trp141Arg
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.486T>C
  hgvsp: ENSP00000450502.1:p.Trp163Arg
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.421T>C
  hgvsp: ENSP00000451180.1:p.Trp141Arg
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-434T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.421T>C
  hgvsp: ENSP00000451206.1:p.Trp141Arg
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*54T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.421T>C
  hgvsp: ENSP00000238633.2:p.Trp141Arg
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp141Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

14-74947446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947446
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947446
    reference: chr 14
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.400A>G
  hgvsp: ENSP00000451206.1:p.Lys134Glu
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.400A>G
  hgvsp: ENSP00000451180.1:p.Lys134Glu
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*33A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.400A>G
  hgvsp: ENSP00000412103.2:p.Lys134Glu
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.465A>G
  hgvsp: ENSP00000450502.1:p.Lys156Glu
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-455A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.400A>G
  hgvsp: ENSP00000451112.1:p.Lys134Glu
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.400A>G
  hgvsp: ENSP00000238633.2:p.Lys134Glu
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys134Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

14-74947447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947447
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947447
    reference: chr 14
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.399C>T
  hgvsp: ENST00000238633.2:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.399C>T
  hgvsp: ENST00000553490.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.399C>T
  hgvsp: ENST00000434013.2:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.399C>T
  hgvsp: ENST00000557510.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.464C>T
  hgvsp: ENST00000556009.1:c.464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.399C>T
  hgvsp: ENST00000555619.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-456C>T
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp133Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-74947458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947458
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947458
    reference: chr 14
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.453C>T
  hgvsp: ENSP00000450502.1:p.Leu152Phe
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.388C>T
  hgvsp: ENSP00000451206.1:p.Leu130Phe
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.388C>T
  hgvsp: ENSP00000238633.2:p.Leu130Phe
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.388C>T
  hgvsp: ENSP00000412103.2:p.Leu130Phe
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.388C>T
  hgvsp: ENSP00000451112.1:p.Leu130Phe
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.388C>T
  hgvsp: ENSP00000451180.1:p.Leu130Phe
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-467C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu130Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

14-74947466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947466
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947466
    reference: chr 14
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.380A>G
  hgvsp: ENSP00000451112.1:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.380A>G
  hgvsp: ENSP00000412103.2:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-475A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.380A>G
  hgvsp: ENSP00000451206.1:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.380A>G
  hgvsp: ENSP00000451180.1:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.380A>G
  hgvsp: ENSP00000238633.2:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.445A>G
  hgvsp: ENSP00000450502.1:p.Glu149Gly
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu127Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-74947473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947473
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947473
    reference: chr 14
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.373G>A
  hgvsp: ENSP00000451206.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.438G>A
  hgvsp: ENSP00000450502.1:p.Val147Met
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.373G>A
  hgvsp: ENSP00000238633.2:p.Val125Met
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-482G>A
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.373G>A
  hgvsp: ENSP00000412103.2:p.Val125Met
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.373G>A
  hgvsp: ENSP00000451180.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.373G>A
  hgvsp: ENSP00000451112.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val125Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

14-74947476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947476
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947476
    reference: chr 14
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.370C>T
  hgvsp: ENST00000553490.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-485C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.370C>T
  hgvsp: ENST00000434013.2:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.370C>T
  hgvsp: ENST00000557510.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.435C>T
  hgvsp: ENST00000556009.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.370C>T
  hgvsp: ENST00000555619.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.370C>T
  hgvsp: ENST00000238633.2:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu124Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

14-74947484-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947484
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947484
    reference: chr 14
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.364-2A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-493A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.429-2A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.159-2A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.364-2A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.364-2A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.364-2A>G
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.364-2A>G
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
hgvs: c.364-2A>G
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-74947493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947493
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947493
    reference: chr 14
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.429-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.159-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.364-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.364-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.364-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-502T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.364-11T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.364-11T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

14-74947508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74947508
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74947508
    reference: chr 14
allele count: 2
allele frequency: 1.657440249279014e-5
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451112
  ensembl transcript: ENST00000555619
  gene symbol: NPC2
  hgvsc: ENST00000555619.1:c.364-26T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451180
  ensembl transcript: ENST00000553490
  gene symbol: NPC2
  hgvsc: ENST00000553490.1:c.364-26T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000442488
  ensembl transcript: ENST00000541064
  gene symbol: NPC2
  hgvsc: ENST00000541064.1:c.364-517T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000238633
  ensembl transcript: ENST00000238633
  gene symbol: NPC2
  hgvsc: ENST00000238633.2:c.364-26T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000450502
  ensembl transcript: ENST00000556009
  gene symbol: NPC2
  hgvsc: ENST00000556009.1:c.429-26T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000412103
  ensembl transcript: ENST00000434013
  gene symbol: NPC2
  hgvsc: ENST00000434013.2:c.364-26T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451314
  ensembl transcript: ENST00000554482
  gene symbol: NPC2
  hgvsc: ENST00000554482.1:c.159-26T>C
  variant of: http://identifiers.org/hgnc/14537
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119655
  ensembl protein: ENSP00000451206
  ensembl transcript: ENST00000557510
  gene symbol: NPC2
  hgvsc: ENST00000557510.1:c.364-26T>C
  variant of: http://identifiers.org/hgnc/14537
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17451
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: -1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.1959e1

QD
type: SiteQuality
SIO_000300: 1.488e1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.434e0

DP
type: SiteQuality
SIO_000300: 1.42824e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 9
bin: 2.75e1
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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variant carriers: 1

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

ClippingRankSum
type: SiteQuality
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MQ
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FS
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

DP
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SIO_000300: 1.429671e6

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 1.711e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 1.457e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.429803e6

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.361161524500907e-3
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.847977935665678e-4
allele num: 66714
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
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BaseQRankSum
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SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.431768e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 150

Other
type: Population
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allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
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East Asian
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
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allele frequency: 8.906931652932623e-3
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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African
type: Population
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allele frequency: 9.611687812379854e-5
allele num: 10404
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6614
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East Asian
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Latino
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South Asian
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African
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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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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
all individuals: 43755
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

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

DP
type: SiteQuality
SIO_000300: 1.442669e6

FS
type: SiteQuality
SIO_000300: 2.564e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
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bin: 6.25e1
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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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
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: 906
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.442669e6

FS
type: SiteQuality
SIO_000300: 2.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

VQSLOD
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SIO_000300: 9.03e-1

QD
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SIO_000300: 1.114e1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.663435909861885e-4
allele num: 16508
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.443737e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.34e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

FS
type: SiteQuality
SIO_000300: 5.985e0

VQSLOD
type: SiteQuality
SIO_000300: -5.003e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 93
allele frequency: 8.938869665513265e-3
allele num: 10404
num of homozygotes: 1

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: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 1.451112e6

QD
type: SiteQuality
SIO_000300: 1.407e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

FS
type: SiteQuality
SIO_000300: 3.159e0

QD
type: SiteQuality
SIO_000300: 1.143e1

DP
type: SiteQuality
SIO_000300: 1.448006e6

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
all individuals: 3066
bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.818e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.069e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.44803e6

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.448092e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048972007432716e-4
allele num: 66732
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
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MQRankSum
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SIO_000300: -5.4e-2

InbreedingCoeff
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SIO_000300: -3.0e-4

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

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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East Asian
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allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 577
allele frequency: 3.495275018173007e-2
allele num: 16508
num of homozygotes: 12

European (Non-Finnish)
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allele count: 9
allele frequency: 1.348637875745497e-4
allele num: 66734
num of homozygotes: 0

Latino
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allele count: 12
allele frequency: 1.037523776586547e-3
allele num: 11566
num of homozygotes: 0

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

African
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allele count: 269
allele frequency: 2.585544021530181e-2
allele num: 10404
num of homozygotes: 7

Other
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allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

BaseQRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.432e0

QD
type: SiteQuality
SIO_000300: 1.044e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
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SIO_000300: -8.129999999999999e-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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
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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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.261e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.888e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 2

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

Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

Latino
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European (Non-Finnish)
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allele num: 66732
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South Asian
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African
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East Asian
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Other
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QD
type: SiteQuality
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ClippingRankSum
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FS
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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African
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South Asian
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Other
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.291e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 4.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

DP
type: SiteQuality
SIO_000300: 1.494402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

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

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

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

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

ClippingRankSum
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SIO_000300: -1.73e-1

ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 4.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.494402e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.906e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.536e0

VQSLOD
type: SiteQuality
SIO_000300: -2.697e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.494971e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-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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variant carriers: 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 frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.498469e6

MQRankSum
type: SiteQuality
SIO_000300: -1.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 4.397e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.236e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ClippingRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
SIO_000300: 1.389e1

VQSLOD
type: SiteQuality
SIO_000300: -4.69e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.75e1
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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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.752029e6

QD
type: SiteQuality
SIO_000300: 1.699e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65894
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 2.4e-3

BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9724
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8456
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517312536036173e-5
allele num: 65906
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South Asian
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Other
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517220452131695e-5
allele num: 65910
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

FS
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QD
type: SiteQuality
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 8
allele frequency: 8.201763379126512e-4
allele num: 9754
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65954
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

DP
type: SiteQuality
SIO_000300: 4.757382e6

QD
type: SiteQuality
SIO_000300: 1.698e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e0

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 569
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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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bin: 1.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026542780182198e-5
allele num: 66082
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.063e0

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.886e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.507e1

DP
type: SiteQuality
SIO_000300: 4.764985e6

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 10
bin: 1.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.35e1

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 6.763e0

DP
type: SiteQuality
SIO_000300: 4.767529e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e0

MQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 448

GenotypeQuality
all individuals: 2547
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.047120418848168e-3
allele num: 11460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018412315122246e-5
allele num: 66260
num of homozygotes: 0

African
type: Population
allele count: 439
allele frequency: 4.326828306721861e-2
allele num: 10146
num of homozygotes: 6

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

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.838475e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.084e0

QD
type: SiteQuality
SIO_000300: 1.525e1

GenotypeQuality
all individuals: 2601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 25
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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: 411
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GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e0

DP
type: SiteQuality
SIO_000300: 4.793106e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 54060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 2759
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

FS
type: SiteQuality
SIO_000300: 9.702999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 4.789946e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.041e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -5.107e-1

GenotypeQuality
all individuals: 270
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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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 646
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.644e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.462e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

DP
type: SiteQuality
SIO_000300: 4.790584e6

GenotypeQuality
all individuals: 577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e0

DP
type: SiteQuality
SIO_000300: 4.791053e6

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-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
all individuals: 54068
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variant carriers: 4

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
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: 16498
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: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005284650492433e-5
allele num: 66608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.345e0

DP
type: SiteQuality
SIO_000300: 4.793319e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 813
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

FS
type: SiteQuality
SIO_000300: 8.063000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 4.792538e6

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 2980
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
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: 10350
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.027e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 5.014e0

QD
type: SiteQuality
SIO_000300: 1.194e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.696e0

DP
type: SiteQuality
SIO_000300: 4.792575e6

GenotypeQuality
all individuals: 648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 44

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 42
allele frequency: 4.051707505305807e-3
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 4.803331e6

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54064
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 16500
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.273e0

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.794442e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3043
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variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 54064
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 423
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500585076059888e-5
allele num: 66658
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.636363636363636e-4
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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: 6610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 4.796081e6

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 424
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variant carriers: 0

GenotypeQuality
all individuals: 54064
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 648
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 4.795458e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.125e0

QD
type: SiteQuality
SIO_000300: 1.404e1

FS
type: SiteQuality
SIO_000300: 2.721e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
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: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.587e0

QD
type: SiteQuality
SIO_000300: 1.257e1

FS
type: SiteQuality
SIO_000300: 4.139e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 4.79605e6

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 4.796181e6

FS
type: SiteQuality
SIO_000300: 4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.029201502483945e-4
allele num: 16506
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.971e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.046e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.298e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

DP
type: SiteQuality
SIO_000300: 4.797017e6

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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
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
all individuals: 6
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.796761e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

FS
type: SiteQuality
SIO_000300: 7.926e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

GenotypeQuality
all individuals: 3117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 2
bin: 3.75e1
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GenotypeQuality
all individuals: 54064
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.25e1
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GenotypeQuality
all individuals: 604
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GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.796832e6

FS
type: SiteQuality
SIO_000300: 1.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.404e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.199e0

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
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
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 54121
bin: 9.75e1
variant carriers: 440

European (Non-Finnish)
type: Population
allele count: 368
allele frequency: 5.514760977071782e-3
allele num: 66730
num of homozygotes: 1

African
type: Population
allele count: 16
allele frequency: 1.538461538461538e-3
allele num: 10400
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: 12
allele frequency: 1.036985827860353e-3
allele num: 11572
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.02571860816944e-3
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.453488372093023e-3
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 4.909162e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
all individuals: 579
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variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

DP
type: SiteQuality
SIO_000300: 4.809952e6

MQ
type: SiteQuality
SIO_000300: 5.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.211e1

MQRankSum
type: SiteQuality
SIO_000300: -1.006e0

VQSLOD
type: SiteQuality
SIO_000300: -1.516e0

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3139
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
all individuals: 837
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.810034e6

MQ
type: SiteQuality
SIO_000300: 5.894e1

VQSLOD
type: SiteQuality
SIO_000300: -5.733e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.479e0

QD
type: SiteQuality
SIO_000300: 1.193e1

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

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 837
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GenotypeQuality
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GenotypeQuality
all individuals: 645
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GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.397506593143131e-4
allele num: 66736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.05143721633888e-4
allele num: 6610
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

FS
type: SiteQuality
SIO_000300: 1.792e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 4.815132e6

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.805e0

DP
type: SiteQuality
SIO_000300: 4.813682e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 54069
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
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

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.612e0

FS
type: SiteQuality
SIO_000300: 3.927e0

MQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

DP
type: SiteQuality
SIO_000300: 4.810139e6

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 599
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 4.81023e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.375e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54069
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.824999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

FS
type: SiteQuality
SIO_000300: 6.54e-1

DP
type: SiteQuality
SIO_000300: 4.80985e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

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

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

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
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GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 4.808355e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
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: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 4.806702e6

QD
type: SiteQuality
SIO_000300: 1.215e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.902e0

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

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 54068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 4.805979e6

QD
type: SiteQuality
SIO_000300: 1.196e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.629e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.486e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 646
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variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.25e1
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: 10138
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 4.804309e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.306e1

FS
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.553e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54069
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 1.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 4.80186e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1