6-8026608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026608
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026608
    reference: chr 6
allele count: 26
allele frequency: 2.142068579149434e-4
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.364C>T
  hgvsp: ENSP00000454697.1:p.Arg122Ter
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.184C>T
  hgvsp: ENSP00000445215.1:p.Arg62Ter
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*192C>T
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*224C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239264
  ensembl protein: ENSP00000442453
  ensembl transcript: ENST00000539054
  gene symbol: TXNDC5
  hgvsc: ENST00000539054.1:c.39C>T
  hgvsp: ENST00000539054.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21073
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.243C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.376C>T
  hgvsp: ENSP00000380598.2:p.Arg126Ter
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  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: 2678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11896
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg126Ter
num of homozygotes: 1
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

6-8026611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026611
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026611
    reference: chr 6
allele count: 8
allele frequency: 6.590654451987082e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.361G>C
  hgvsp: ENSP00000454697.1:p.Glu121Gln
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239264
  ensembl protein: ENSP00000442453
  ensembl transcript: ENST00000539054
  gene symbol: TXNDC5
  hgvsc: ENST00000539054.1:c.36G>C
  hgvsp: ENSP00000442453.1:p.Arg12Ser
  variant of: http://identifiers.org/hgnc/21073
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.373G>C
  hgvsp: ENSP00000380598.2:p.Glu125Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*189G>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.181G>C
  hgvsp: ENSP00000445215.1:p.Glu61Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.240G>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*221G>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22633
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Glu125Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

6-8026617-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026617
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026617
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*215G>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.175G>C
  hgvsp: ENSP00000445215.1:p.Glu59Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*183G>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.355G>C
  hgvsp: ENSP00000454697.1:p.Glu119Gln
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239264
  ensembl protein: ENSP00000442453
  ensembl transcript: ENST00000539054
  gene symbol: TXNDC5
  hgvsc: ENST00000539054.1:c.30G>C
  hgvsp: ENST00000539054.1:c.30G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21073
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.234G>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.367G>C
  hgvsp: ENSP00000380598.2:p.Glu123Gln
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu123Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

6-8026623-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026623
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026623
    reference: chr 6
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.361C>A
  hgvsp: ENSP00000380598.2:p.Gln121Lys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.349C>A
  hgvsp: ENSP00000454697.1:p.Gln117Lys
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*209C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239264
  ensembl protein: ENSP00000442453
  ensembl transcript: ENST00000539054
  gene symbol: TXNDC5
  hgvsc: ENST00000539054.1:c.24C>A
  hgvsp: ENSP00000442453.1:p.Asn8Lys
  variant of: http://identifiers.org/hgnc/21073
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*177C>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.169C>A
  hgvsp: ENSP00000445215.1:p.Gln57Lys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.228C>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 2.25e1
  variant carriers: 0
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: 11951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln121Lys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-8026637-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026637
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026637
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.214T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.347T>G
  hgvsp: ENSP00000380598.2:p.Val116Gly
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.155T>G
  hgvsp: ENSP00000445215.1:p.Val52Gly
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.335T>G
  hgvsp: ENSP00000454697.1:p.Val112Gly
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*163T>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239264
  ensembl protein: ENSP00000442453
  ensembl transcript: ENST00000539054
  gene symbol: TXNDC5
  hgvsc: ENST00000539054.1:c.10T>G
  hgvsp: ENSP00000442453.1:p.Ser4Ala
  variant of: http://identifiers.org/hgnc/21073
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*195T>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11936
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val116Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-8026641-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026641
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026641
    reference: chr 6
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.343T>G
  hgvsp: ENSP00000380598.2:p.Ser115Ala
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*191T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.210T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*159T>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.151T>G
  hgvsp: ENSP00000445215.1:p.Ser51Ala
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.331T>G
  hgvsp: ENSP00000454697.1:p.Ser111Ala
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239264
  ensembl protein: ENSP00000442453
  ensembl transcript: ENST00000539054
  gene symbol: TXNDC5
  hgvsc: ENST00000539054.1:c.6T>G
  hgvsp: ENST00000539054.1:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21073
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser115Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

6-8026660-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026660
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026660
    reference: chr 6
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.314-2A>C
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*174-2A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*142-2A>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.134-2A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.193-2A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.326-2A>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: c.314-2A>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-8026674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026674
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026674
    reference: chr 6
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*174-16G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.134-16G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.326-16G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*142-16G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.193-16G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.314-16G>A
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

6-8026698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026698
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026698
    reference: chr 6
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*174-40A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.326-40A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*142-40A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.134-40A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.193-40A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.314-40A>G
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
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genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

6-8026705-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8026705
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8026705
    reference: chr 6
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*142-47C>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.193-47C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.134-47C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*174-47C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.326-47C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.314-47C>A
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

6-8027572-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8027572
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8027572
    reference: chr 6
allele count: 1
allele frequency: 8.128759551292472e-5
allele num: 12302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.193-914A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.314-914A>C
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.326-914A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*41A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*142-914A>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.134-914A>C
  variant of: http://identifiers.org/hgnc/18561
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-8027602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8027602
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8027602
    reference: chr 6
allele count: 1
allele frequency: 8.124796880077999e-5
allele num: 12308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.314-944G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*142-944G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.193-944G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.134-944G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.*11G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.326-944G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/6-8027669-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8027669
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8027669
    reference: chr 6
allele count: 8
allele frequency: 6.499837504062399e-4
allele num: 12308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*142-1011T>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.314-1011T>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.134-1011T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.326-37T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.193-1011T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.326-1011T>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

6-8041335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041335
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041335
    reference: chr 6
allele count: 1
allele frequency: 8.332222370350619e-6
allele num: 120016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.192+37C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*141+37C>T
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.133+37C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.325+37C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.325+37C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.313+37C>T
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10749
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

6-8041350-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041350
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041350
    reference: chr 6
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.192+22A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.325+22A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.313+22A>C
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.133+22A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.325+22A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*141+22A>C
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-8041357-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041357
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041357
    reference: chr 6
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.133+15C>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.313+15C>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*141+15C>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.192+15C>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.325+15C>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.325+15C>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

6-8041361-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041361
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041361
    reference: chr 6
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.313+11A>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.133+11A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.192+11A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*141+11A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.325+11A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.325+11A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

6-8041379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041379
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041379
    reference: chr 6
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.306C>T
  hgvsp: ENST00000439343.2:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.318C>T
  hgvsp: ENST00000244777.2:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.318C>T
  hgvsp: ENST00000397457.2:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.126C>T
  hgvsp: ENST00000543936.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.185C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*134C>T
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu106Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

6-8041384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041384
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041384
    reference: chr 6
allele count: 4
allele frequency: 3.297935492381769e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.121G>A
  hgvsp: ENSP00000445215.1:p.Val41Ile
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.180G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.313G>A
  hgvsp: ENSP00000380598.2:p.Val105Ile
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.313G>A
  hgvsp: ENSP00000244777.2:p.Val105Ile
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.301G>A
  hgvsp: ENSP00000454697.1:p.Val101Ile
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*129G>A
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val105Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

6-8041395-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041395
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041395
    reference: chr 6
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*118G>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.302G>C
  hgvsp: ENSP00000380598.2:p.Ser101Thr
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.169G>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.290G>C
  hgvsp: ENSP00000454697.1:p.Ser97Thr
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.302G>C
  hgvsp: ENSP00000244777.2:p.Ser101Thr
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.110G>C
  hgvsp: ENSP00000445215.1:p.Ser37Thr
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42604
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser101Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

6-8041396-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041396
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041396
    reference: chr 6
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.109A>C
  hgvsp: ENSP00000445215.1:p.Ser37Arg
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*117A>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.289A>C
  hgvsp: ENSP00000454697.1:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.301A>C
  hgvsp: ENSP00000380598.2:p.Ser101Arg
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.301A>C
  hgvsp: ENSP00000244777.2:p.Ser101Arg
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.168A>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser101Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

6-8041401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041401
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041401
    reference: chr 6
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.163G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*112G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.104G>A
  hgvsp: ENSP00000445215.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.296G>A
  hgvsp: ENSP00000244777.2:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.296G>A
  hgvsp: ENSP00000380598.2:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.284G>A
  hgvsp: ENSP00000454697.1:p.Arg95Gln
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg99Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

6-8041402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041402
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041402
    reference: chr 6
allele count: 5
allele frequency: 4.119702063146793e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.295C>T
  hgvsp: ENSP00000244777.2:p.Arg99Trp
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.103C>T
  hgvsp: ENSP00000445215.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.283C>T
  hgvsp: ENSP00000454697.1:p.Arg95Trp
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.295C>T
  hgvsp: ENSP00000380598.2:p.Arg99Trp
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*111C>T
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.162C>T
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg99Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

6-8041402-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041402
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041402
    reference: chr 6
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*111C>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.162C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.283C>A
  hgvsp: ENST00000439343.2:c.283C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.103C>A
  hgvsp: ENST00000543936.1:c.103C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.295C>A
  hgvsp: ENST00000244777.2:c.295C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.295C>A
  hgvsp: ENST00000397457.2:c.295C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg99Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

6-8041405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041405
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041405
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.292A>G
  hgvsp: ENSP00000244777.2:p.Met98Val
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*108A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.280A>G
  hgvsp: ENSP00000454697.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.292A>G
  hgvsp: ENSP00000380598.2:p.Met98Val
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.100A>G
  hgvsp: ENSP00000445215.1:p.Met34Val
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.159A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10964
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met98Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-8041415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041415
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041415
    reference: chr 6
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.282T>C
  hgvsp: ENST00000244777.2:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.149T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.270T>C
  hgvsp: ENST00000439343.2:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*98T>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.90T>C
  hgvsp: ENST00000543936.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.282T>C
  hgvsp: ENST00000397457.2:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  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: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys94Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

6-8041423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041423
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041423
    reference: chr 6
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.262C>T
  hgvsp: ENSP00000454697.1:p.Pro88Ser
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.274C>T
  hgvsp: ENSP00000244777.2:p.Pro92Ser
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.274C>T
  hgvsp: ENSP00000380598.2:p.Pro92Ser
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.141C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.82C>T
  hgvsp: ENSP00000445215.1:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*90C>T
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro92Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS

6-8041436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041436
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041436
    reference: chr 6
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*77T>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.261T>C
  hgvsp: ENST00000397457.2:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.261T>C
  hgvsp: ENST00000244777.2:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.69T>C
  hgvsp: ENST00000543936.1:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.249T>C
  hgvsp: ENST00000439343.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.128T>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn87Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

6-8041437-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041437
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041437
    reference: chr 6
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*76A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.68A>G
  hgvsp: ENSP00000445215.1:p.Asn23Ser
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.260A>G
  hgvsp: ENSP00000380598.2:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.260A>G
  hgvsp: ENSP00000244777.2:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.248A>G
  hgvsp: ENSP00000454697.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.127A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42713
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn87Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

6-8041446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041446
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041446
    reference: chr 6
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.59A>G
  hgvsp: ENSP00000445215.1:p.His20Arg
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.251A>G
  hgvsp: ENSP00000380598.2:p.His84Arg
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.239A>G
  hgvsp: ENSP00000454697.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.118A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.251A>G
  hgvsp: ENSP00000244777.2:p.His84Arg
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*67A>G
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His84Arg
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: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

6-8041453-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041453
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041453
    reference: chr 6
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.244A>G
  hgvsp: ENSP00000380598.2:p.Met82Val
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.52A>G
  hgvsp: ENSP00000445215.1:p.Met18Val
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*60A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.111A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.244A>G
  hgvsp: ENSP00000244777.2:p.Met82Val
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.232A>G
  hgvsp: ENSP00000454697.1:p.Met78Val
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met82Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

6-8041468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041468
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041468
    reference: chr 6
allele count: 9
allele frequency: 7.421823459559309e-5
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*45G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.96G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.229G>A
  hgvsp: ENSP00000244777.2:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.217G>A
  hgvsp: ENSP00000454697.1:p.Glu73Lys
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.37G>A
  hgvsp: ENSP00000445215.1:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.229G>A
  hgvsp: ENSP00000380598.2:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu77Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-8041471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041471
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041471
    reference: chr 6
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.214C>T
  hgvsp: ENSP00000454697.1:p.Leu72Phe
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.34C>T
  hgvsp: ENSP00000445215.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.226C>T
  hgvsp: ENSP00000380598.2:p.Leu76Phe
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.93C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.226C>T
  hgvsp: ENSP00000244777.2:p.Leu76Phe
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10949
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu76Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-8041476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041476
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041476
    reference: chr 6
allele count: 7
allele frequency: 5.775482252768106e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.221G>A
  hgvsp: ENSP00000244777.2:p.Arg74Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.209G>A
  hgvsp: ENSP00000454697.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.221G>A
  hgvsp: ENSP00000380598.2:p.Arg74Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.29G>A
  hgvsp: ENSP00000445215.1:p.Arg10Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*37G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.88G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg74Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

6-8041485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041485
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041485
    reference: chr 6
allele count: 14
allele frequency: 1.156718884262013e-4
allele num: 121032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.212G>A
  hgvsp: ENSP00000244777.2:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.212G>A
  hgvsp: ENSP00000380598.2:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.200G>A
  hgvsp: ENSP00000454697.1:p.Arg67Gln
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*28G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.20G>A
  hgvsp: ENSP00000445215.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.79G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg71Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-8041489-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041489
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041489
    reference: chr 6
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.208C>A
  hgvsp: ENSP00000244777.2:p.Leu70Ile
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*24C>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.16C>A
  hgvsp: ENSP00000445215.1:p.Leu6Ile
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.196C>A
  hgvsp: ENSP00000454697.1:p.Leu66Ile
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.75C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.208C>A
  hgvsp: ENSP00000380598.2:p.Leu70Ile
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu70Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-8041494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041494
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041494
    reference: chr 6
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.203G>A
  hgvsp: ENSP00000244777.2:p.Arg68His
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.203G>A
  hgvsp: ENSP00000380598.2:p.Arg68His
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.11G>A
  hgvsp: ENSP00000445215.1:p.Arg4His
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*19G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.191G>A
  hgvsp: ENSP00000454697.1:p.Arg64His
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.70G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg68His
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

6-8041495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041495
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041495
    reference: chr 6
allele count: 9
allele frequency: 7.453539603140425e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.202C>T
  hgvsp: ENSP00000244777.2:p.Arg68Cys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.69C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.202C>T
  hgvsp: ENSP00000380598.2:p.Arg68Cys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*18C>T
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.10C>T
  hgvsp: ENSP00000445215.1:p.Arg4Cys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.190C>T
  hgvsp: ENSP00000454697.1:p.Arg64Cys
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg68Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-8041496-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041496
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041496
    reference: chr 6
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.201A>C
  hgvsp: ENSP00000380598.2:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.9A>C
  hgvsp: ENSP00000445215.1:p.Lys3Asn
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.68A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.189A>C
  hgvsp: ENSP00000454697.1:p.Lys63Asn
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.201A>C
  hgvsp: ENSP00000244777.2:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*17A>C
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys67Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-8041508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041508
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041508
    reference: chr 6
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-7T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-7T>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-7T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-7T>C
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-7T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-7T>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.75e1
  variant carriers: 0
hgvs: c.*12-7T>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-8041510-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041510
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041510
    reference: chr 6
allele count: 5
allele frequency: 4.156137784279825e-5
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-9T>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-9T>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-9T>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-9T>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-9T>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-9T>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16426
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10505
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-8041513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041513
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041513
    reference: chr 6
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-12T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-12T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-12T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-12T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-12T>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-12T>C
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-8041516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041516
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041516
    reference: chr 6
allele count: 2
allele frequency: 1.666916704172292e-5
allele num: 119982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-15A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-15A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-15A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-15A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-15A>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-15A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-8041519-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041519
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041519
    reference: chr 6
allele count: 1
allele frequency: 8.347663488989432e-6
allele num: 119794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-18T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-18T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-18T>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-18T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-18T>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-18T>G
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

6-8041520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041520
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041520
    reference: chr 6
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-19A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-19A>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-19A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-19A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-19A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-19A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

6-8041523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041523
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041523
    reference: chr 6
allele count: 3
allele frequency: 2.52177129215561e-5
allele num: 118964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-22G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-22G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-22G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-22G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-22G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-22G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

6-8041524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041524
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041524
    reference: chr 6
allele count: 2
allele frequency: 1.681859463823203e-5
allele num: 118916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-23A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-23A>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-23A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-23A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-23A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-23A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

6-8041533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041533
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041533
    reference: chr 6
allele count: 1
allele frequency: 9.082487148280686e-6
allele num: 110102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-32A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-32A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-32A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-32A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-32A>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-32A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

6-8041539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041539
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041539
    reference: chr 6
allele count: 24
allele frequency: 4.656938838869916e-4
allele num: 51536
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-38G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-38G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-38G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-38G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-38G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-38G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12635
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9134
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 1.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

6-8041540-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041540
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041540
    reference: chr 6
allele count: 1
allele frequency: 1.558895055184885e-5
allele num: 64148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-39A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-39A>C
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-39A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-39A>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-39A>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-39A>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9436
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-8041543-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041543
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041542
    reference: chr 6
allele count: 2
allele frequency: 4.316112046268721e-5
allele num: 46338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-43delG
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-43delG
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-43delG
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-43delG
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-43delG
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-43delG
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20797
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

6-8041544-C-CATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041544
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041547
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 9578
alternate allele: CATT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-44_4-43insAAT
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-44_184-43insAAT
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-44_63-43insAAT
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-44_196-43insAAT
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-44_196-43insAAT
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-44_*12-43insAAT
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

6-8041544-C-CCTTTTTTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041544
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041553
    reference: chr 6
allele count: 2
allele frequency: 2.088118605136772e-4
allele num: 9578
alternate allele: CCTTTTTTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

6-8041544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041544
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041544
    reference: chr 6
allele count: 12
allele frequency: 1.252871163082063e-3
allele num: 9578
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-43G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-43G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-43G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-43G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-43G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-43G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46129
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-8041553-T-TTTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8041553
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8041557
    reference: chr 6
allele count: 2
allele frequency: 1.984993449521617e-5
allele num: 100756
alternate allele: TTTTC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.196-53_196-52insGAAA
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl transcript: ENST00000486432
  gene symbol: BLOC1S5
  hgvsc: ENST00000486432.1:n.63-53_63-52insGAAA
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.184-53_184-52insGAAA
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.196-53_196-52insGAAA
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*12-53_*12-52insGAAA
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.4-53_4-52insGAAA
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

6-8054498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8054498
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8054498
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 11936
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+8269G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.3+5G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+8269G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+8269G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+8269G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

6-8054505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8054505
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8054505
    reference: chr 6
allele count: 9
allele frequency: 7.531380753138076e-4
allele num: 11950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+8262A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+8262A>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: splice_region_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.1A>G
  hgvsp: ENSP00000445215.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+8262A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+8262A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

6-8054514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8054514
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8054514
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 11956
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+8253T>C
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+8253T>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+8253T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+8253T>C
  variant of: http://identifiers.org/hgnc/18561
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

6-8054523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8054523
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8054523
    reference: chr 6
allele count: 2
allele frequency: 1.673360107095047e-4
allele num: 11952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+8244A>G
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+8244A>G
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+8244A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+8244A>G
  variant of: http://identifiers.org/hgnc/18561
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

6-8054555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8054555
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8054555
    reference: chr 6
allele count: 1
allele frequency: 8.500510030601836e-5
allele num: 11764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-50G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+8212G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+8212G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+8212G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+8212G>A
  variant of: http://identifiers.org/hgnc/49187
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 340
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

6-8062718-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062718
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062718
    reference: chr 6
allele count: 1
allele frequency: 1.978239366963403e-5
allele num: 50550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+49T>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+49T>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+49T>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+49T>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+49T>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 214
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
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genotype quality: GenotypeQuality
  all individuals: 4070
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1600
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genotype quality: GenotypeQuality
  all individuals: 335
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 1.25e1
  variant carriers: 0
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: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-8062719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062719
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062719
    reference: chr 6
allele count: 2
allele frequency: 3.961651216226923e-5
allele num: 50484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+48G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+48G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+48G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+48G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+48G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7099
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

6-8062725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062725
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062725
    reference: chr 6
allele count: 2
allele frequency: 3.953819389530286e-5
allele num: 50584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+42G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+42G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+42G>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+42G>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+42G>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25368
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6841
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-8062727-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062727
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062726
    reference: chr 6
allele count: 1
allele frequency: 1.938435295029852e-5
allele num: 51588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+39delA
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+39delA
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+39delA
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+39delA
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+39delA
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: AT
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

6-8062729-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062729
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062728
    reference: chr 6
allele count: 2
allele frequency: 3.853861569292431e-5
allele num: 51896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+37delT
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+37delT
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+37delT
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+37delT
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+37delT
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15046
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: TA
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

6-8062736-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062736
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062736
    reference: chr 6
allele count: 1
allele frequency: 1.851097700936655e-5
allele num: 54022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+31C>A
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+31C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+31C>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+31C>A
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+31C>A
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

6-8062749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062749
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062749
    reference: chr 6
allele count: 1
allele frequency: 1.637411579774692e-5
allele num: 61072
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+18T>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+18T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+18T>C
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+18T>C
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+18T>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

6-8062753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062753
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062753
    reference: chr 6
allele count: 1
allele frequency: 1.529894131326112e-5
allele num: 65364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*11+14C>T
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.183+14C>T
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.195+14C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-101+14C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.195+14C>T
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-8062775-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062775
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062776
    reference: chr 6
allele count: 2
allele frequency: 2.093890028895682e-5
allele num: 95516
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.186dupA
  hgvsp: ENSP00000380598.2:p.Glu63ArgfsTer3
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*2dupA
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.174dupA
  hgvsp: ENSP00000454697.1:p.Glu59ArgfsTer3
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.186dupA
  hgvsp: ENSP00000244777.2:p.Glu63ArgfsTer3
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-110dupA
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu59ArgfsTer3
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

6-8062775-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062775
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062775
    reference: chr 6
allele count: 5
allele frequency: 5.234725072239206e-5
allele num: 95516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.175G>C
  hgvsp: ENSP00000454697.1:p.Glu59Gln
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.187G>C
  hgvsp: ENSP00000244777.2:p.Glu63Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.*3G>C
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.187G>C
  hgvsp: ENSP00000380598.2:p.Glu63Gln
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-109G>C
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37156
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu63Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/6-8062780-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062780
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062779
    reference: chr 6
allele count: 2
allele frequency: 1.994256541161455e-5
allele num: 100288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.181delG
  hgvsp: ENSP00000244777.2:p.Val61Ter
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.181delG
  hgvsp: ENSP00000380598.2:p.Val61Ter
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.453delG
  hgvsp: ENSP00000380597.2:p.Leu151PhefsTer5
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.169delG
  hgvsp: ENSP00000454697.1:p.Val57Ter
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-115delG
  variant of: http://identifiers.org/hgnc/18561
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 39708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10420
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu151PhefsTer5
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: AC
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

6-8062789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062789
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062789
    reference: chr 6
allele count: 2
allele frequency: 1.885974011278125e-5
allele num: 106046
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.161G>A
  hgvsp: ENSP00000454697.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/42001
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.173G>A
  hgvsp: ENSP00000244777.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.173G>A
  hgvsp: ENSP00000380598.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-123G>A
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.445G>A
  hgvsp: ENSP00000380597.2:p.Val149Ile
  variant of: http://identifiers.org/hgnc/49187
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val149Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

6-8062790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8062790
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 8062790
    reference: chr 6
allele count: 1
allele frequency: 9.358213704168149e-6
allele num: 106858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000445215
  ensembl transcript: ENST00000543936
  gene symbol: BLOC1S5
  hgvsc: ENST00000543936.1:c.-124C>T
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000380598
  ensembl transcript: ENST00000397457
  gene symbol: BLOC1S5
  hgvsc: ENST00000397457.2:c.172C>T
  hgvsp: ENSP00000380598.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000265818
  ensembl protein: ENSP00000380597
  ensembl transcript: ENST00000397456
  gene symbol: EEF1E1-BLOC1S5
  hgvsc: ENST00000397456.2:c.444C>T
  hgvsp: ENST00000397456.2:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/49187
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000188428
  ensembl protein: ENSP00000244777
  ensembl transcript: ENST00000244777
  gene symbol: BLOC1S5
  hgvsc: ENST00000244777.2:c.172C>T
  hgvsp: ENSP00000244777.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/18561
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259040
  ensembl protein: ENSP00000454697
  ensembl transcript: ENST00000439343
  gene symbol: BLOC1S5-TXNDC5
  hgvsc: ENST00000439343.2:c.160C>T
  hgvsp: ENSP00000454697.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/42001
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg58Cys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 22645
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 5115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4034
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5250
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5904
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-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

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

Latino
type: Population
allele count: 19
allele frequency: 1.64161050630724e-3
allele num: 11574
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494004796163069e-5
allele num: 66720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.65703e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

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

GenotypeQuality
all individuals: 0
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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.995203836930456e-5
allele num: 66720
num of homozygotes: 0

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

Latino
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allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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SIO_000300: 2.21e0

VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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ClippingRankSum
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.942e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.224e0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
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SIO_000300: 2.7e-2

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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FS
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
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East Asian
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African
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European (Non-Finnish)
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allele num: 66700
num of homozygotes: 0

European (Finnish)
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allele num: 6612
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
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FS
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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East Asian
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European (Finnish)
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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: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 1.500555205426008e-5
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Other
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num of homozygotes: 0

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

FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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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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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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East Asian
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Latino
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MQ
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DP
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MQRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

GenotypeQuality
all individuals: 682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.811594202898551e-3
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.66371e5

GenotypeQuality
all individuals: 544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3363
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 340
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 1.049868766404199e-3
allele num: 7620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.337e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

DP
type: SiteQuality
SIO_000300: 2.63967e5

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

VQSLOD
type: SiteQuality
SIO_000300: -2.711e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 2.494e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.984269e6

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

QD
type: SiteQuality
SIO_000300: 9.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.002153e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41555
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variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.009238e6

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

VQSLOD
type: SiteQuality
SIO_000300: -7.503e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.352e1

MQ
type: SiteQuality
SIO_000300: 5.635e1

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

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

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 2169
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variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10872
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: -7.271e-1

QD
type: SiteQuality
SIO_000300: 1.721e1

DP
type: SiteQuality
SIO_000300: 2.012457e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

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

GenotypeQuality
all individuals: 876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

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

GenotypeQuality
all individuals: 366
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variant carriers: 0

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

GenotypeQuality
all individuals: 2168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
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: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.951e0

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 2.021976e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e0

VQSLOD
type: SiteQuality
SIO_000300: -4.166e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 2.167e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 872
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variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00096015362458e-5
allele num: 66656
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: 904
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

DP
type: SiteQuality
SIO_000300: 2.023164e6

QD
type: SiteQuality
SIO_000300: 1.24e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.045e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.087e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

DP
type: SiteQuality
SIO_000300: 2.023767e6

FS
type: SiteQuality
SIO_000300: 1.729e0

VQSLOD
type: SiteQuality
SIO_000300: -2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-2

MQ
type: SiteQuality
SIO_000300: 5.841e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
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bin: 4.75e1
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: 3.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
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GenotypeQuality
all individuals: 1419
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 1.093e0

DP
type: SiteQuality
SIO_000300: 2.023564e6

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 1419
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 10963
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42641
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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SIO_000300: 1.26e0

QD
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 904
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African
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allele frequency: 4.804920238324044e-4
allele num: 10406
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East Asian
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66714
num of homozygotes: 0

African
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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SIO_000300: 5.615e1

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

European (Non-Finnish)
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allele num: 66718
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Latino
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Other
type: Population
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

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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bin: 9.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

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

European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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African
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allele num: 10402
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Latino
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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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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bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
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num of homozygotes: 0

Latino
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East Asian
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South Asian
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Other
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European (Finnish)
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African
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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DP
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VQSLOD
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FS
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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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African
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European (Finnish)
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Latino
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.675534991324465e-4
allele num: 10374
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.029e0

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 5.744e1

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.273e0

VQSLOD
type: SiteQuality
SIO_000300: -4.169e-1

DP
type: SiteQuality
SIO_000300: 2.022872e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 304
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GenotypeQuality
all individuals: 1398
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.027e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

FS
type: SiteQuality
SIO_000300: 1.895e0

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.765e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.031e0

DP
type: SiteQuality
SIO_000300: 2.022272e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.825323296660876e-4
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
SIO_000300: 2.021746e6

GenotypeQuality
all individuals: 2155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

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: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005981903988938e-5
allele num: 66534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 7.286859363614282e-4
allele num: 16468
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 2.018159e6

MQ
type: SiteQuality
SIO_000300: 5.748e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: -1.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2145
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variant carriers: 0

GenotypeQuality
all individuals: 10898
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 1.568e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.972e0

DP
type: SiteQuality
SIO_000300: 2.015761e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 843
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 26
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
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: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

DP
type: SiteQuality
SIO_000300: 2.011211e6

QD
type: SiteQuality
SIO_000300: 1.505e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 41798
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variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.282896263634254e-4
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.100536847242558e-5
allele num: 16392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.715e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

FS
type: SiteQuality
SIO_000300: 2.096e0

DP
type: SiteQuality
SIO_000300: 2.009633e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013409673045051e-5
allele num: 66370
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.481e1

DP
type: SiteQuality
SIO_000300: 2.006691e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

FS
type: SiteQuality
SIO_000300: 3.063e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66212
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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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variant carriers: 5

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

African
type: Population
allele count: 2
allele frequency: 1.954652071931196e-4
allele num: 10232
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.531722054380665e-5
allele num: 66200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.833e1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-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
all individuals: 316
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GenotypeQuality
all individuals: 355
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.814e1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

FS
type: SiteQuality
SIO_000300: 1.353e0

DP
type: SiteQuality
SIO_000300: 1.967047e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.615e0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10099
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 787
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027092477675193e-5
allele num: 66070
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 5.598e1

DP
type: SiteQuality
SIO_000300: 1.944077e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.092e0

FS
type: SiteQuality
SIO_000300: 7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
all individuals: 1958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9687
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.19348445435402e-5
allele num: 16146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.907213e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 3.349e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.629e0

GenotypeQuality
all individuals: 1051
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 761
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variant carriers: 0

GenotypeQuality
all individuals: 9629
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516760200212346e-5
allele num: 65930
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.906665e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.137e0

FS
type: SiteQuality
SIO_000300: 9.548999999999999e0

QD
type: SiteQuality
SIO_000300: 1.633e1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

GenotypeQuality
all individuals: 582
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30462
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043584124665206e-5
allele num: 65712
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: -6.334e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.865192e6

MQ
type: SiteQuality
SIO_000300: 5.789e1

FS
type: SiteQuality
SIO_000300: 4.273e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28905
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variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8748
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variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046180090166931e-5
allele num: 65656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.847543e6

MQ
type: SiteQuality
SIO_000300: 5.574e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.738e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 2.662e1

GenotypeQuality
all individuals: 1839
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6433
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62871754780286e-5
allele num: 61398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

DP
type: SiteQuality
SIO_000300: 1.630927e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.691e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 2.462e1

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 12779
bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 2

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 2

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.1875e-4
allele num: 32000
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.396648044692737e-3
allele num: 3580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.573340195573855e-4
allele num: 3886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 3.008021390374331e-3
allele num: 2992
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.750937734433609e-4
allele num: 5332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.469541e6

MQ
type: SiteQuality
SIO_000300: 5.742e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

FS
type: SiteQuality
SIO_000300: 1.5816e1

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 13937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 2886
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 422
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.651254953764861e-4
allele num: 6056
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.71e0

MQ
type: SiteQuality
SIO_000300: 5.315e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

FS
type: SiteQuality
SIO_000300: 2.782e0

DP
type: SiteQuality
SIO_000300: 1.541822e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.840413160954922e-5
allele num: 29238
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.352e1

DP
type: SiteQuality
SIO_000300: 1.549799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.046e-1

QD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.199e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.997e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 9.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.449e0

DP
type: SiteQuality
SIO_000300: 1.494162e6

MQ
type: SiteQuality
SIO_000300: 5.329e1

QD
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 129
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.659574468085106e-4
allele num: 7520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.997e-1

DP
type: SiteQuality
SIO_000300: 1.494162e6

MQRankSum
type: SiteQuality
SIO_000300: -1.449e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

QD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 9.288e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.329e1

GenotypeQuality
all individuals: 1346
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 1
allele frequency: 5.208333333333333e-3
allele num: 192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.319148936170213e-4
allele num: 7520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.408450704225352e-3
allele num: 710
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 8.771929824561403e-3
allele num: 228
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.076142131979695e-3
allele num: 394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.219409282700422e-3
allele num: 474
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.449e0

QD
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.997e-1

MQ
type: SiteQuality
SIO_000300: 5.329e1

FS
type: SiteQuality
SIO_000300: 9.288e0

DP
type: SiteQuality
SIO_000300: 1.494162e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

GenotypeQuality
all individuals: 680
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7162
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.736501886933453e-5
allele num: 53526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.641e1

DP
type: SiteQuality
SIO_000300: 1.564611e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.461e0

MQ
type: SiteQuality
SIO_000300: 4.922e1

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 783
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.84316e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.619e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 787
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 65
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 526
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 1.612903225806452e-2
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.84701e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.403e1

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1754
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.84445e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

QD
type: SiteQuality
SIO_000300: 1.179e1

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1753
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.707092582566324e-4
allele num: 7388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.8344e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.89e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1777
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.377790024800221e-4
allele num: 7258
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.074e0

QD
type: SiteQuality
SIO_000300: 1.838e1

DP
type: SiteQuality
SIO_000300: 1.75849e5

GenotypeQuality
all individuals: 15242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6633
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.268391679350583e-4
allele num: 7884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24254
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.72346e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 1.637e1

VQSLOD
type: SiteQuality
SIO_000300: -2.495e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

GenotypeQuality
all individuals: 1601
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5056
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.277044854881266e-4
allele num: 3790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.163e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

QD
type: SiteQuality
SIO_000300: 9.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 6.73982e5

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.556237218813906e-4
allele num: 7824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 6.87858e5

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
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SIO_000300: 6.0e1

FS
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 24718
num of homozygotes: 0

African
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allele frequency: 2.035830618892508e-4
allele num: 4912
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3918
num of homozygotes: 0

African
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allele frequency: 4.058441558441559e-4
allele num: 4928
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24862
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 25994
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.650709805216243e-4
allele num: 6058
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3824
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.76e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.942e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-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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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 2.074688796680498e-4
allele num: 4820
num of homozygotes: 0

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: 0
allele frequency: 0.0e0
allele num: 29602
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

African
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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: 7014
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 8.58566e5

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: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele frequency: 3.14030900640623e-5
allele num: 31844
num of homozygotes: 0

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
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.061e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.14748e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-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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variant carriers: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7856
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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: 754
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.057947490159477e-5
allele num: 49286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

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

Latino
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allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 754
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5796
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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
allele frequency: 0.0e0
allele num: 49286
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African
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allele frequency: 6.305170239596469e-4
allele num: 7930
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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VQSLOD
type: SiteQuality
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QD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 2.314814814814815e-4
allele num: 8640
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56506
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
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ClippingRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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