17-20000131-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000131
    reference: chr 17
allele count: 59023
allele frequency: 4.944790724171442e-1
allele num: 119364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87394G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+20G>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 7.25e1
  variant carriers: 948
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.25e1
  variant carriers: 1046
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 1695
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 6.75e1
  variant carriers: 648
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.75e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.25e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 30014
  bin: 9.75e1
  variant carriers: 28127
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 2.75e1
  variant carriers: 809
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 8.75e1
  variant carriers: 1947
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.25e1
  variant carriers: 1333
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 8.25e1
  variant carriers: 1592
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 7.75e1
  variant carriers: 1157
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 467
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 9.25e1
  variant carriers: 2336
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 6.25e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 136
num of homozygotes: 15212
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-20000139-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000139
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000139
    reference: chr 17
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87402C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+28C>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-20000145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000145
    reference: chr 17
allele count: 7
allele frequency: 6.037293222707122e-5
allele num: 115946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87408G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+34G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-20000145-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000145
    reference: chr 17
allele count: 20
allele frequency: 1.724940920773463e-4
allele num: 115946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87408G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+34G>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-20000149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000149
    reference: chr 17
allele count: 2
allele frequency: 1.736985635128798e-5
allele num: 115142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87412G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+38G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-20000154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000154
    reference: chr 17
allele count: 4
allele frequency: 3.485109868088591e-5
allele num: 114774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87417C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+43C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

17-20000160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000160
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000160
    reference: chr 17
allele count: 1
allele frequency: 8.750437521876094e-6
allele num: 114280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87423G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+49G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+49G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-20000160-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20000160
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20000160
    reference: chr 17
allele count: 1
allele frequency: 8.750437521876094e-6
allele num: 114280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.305+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+87423G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.147+49G>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-20013692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013692
    reference: chr 17
allele count: 1
allele frequency: 8.705341597604291e-6
allele num: 114872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+100955C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.306-48C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.148-48C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

17-20013710-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013710
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013710
    reference: chr 17
allele count: 4
allele frequency: 3.460866254823582e-5
allele num: 115578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.306-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+100973A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.148-30A>G
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-20013733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013733
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013733
    reference: chr 17
allele count: 1
allele frequency: 8.4742890071523e-6
allele num: 118004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+100996C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.306-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.148-7C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.25e1
  variant carriers: 0
hgvs: c.148-7C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-20013734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013734
    reference: chr 17
allele count: 1
allele frequency: 8.463244130740195e-6
allele num: 118158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.306-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+100997T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.148-6T>C
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33770
  bin: 6.25e1
  variant carriers: 0
hgvs: c.148-6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

17-20013745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013745
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013745
    reference: chr 17
allele count: 1
allele frequency: 8.372264362619514e-6
allele num: 119442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.153G>A
  hgvsp: ENST00000583463.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.153G>A
  hgvsp: ENST00000395527.4:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101008G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.153G>A
  hgvsp: ENST00000580934.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.311G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.153G>A
  hgvsp: ENST00000581973.2:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.153G>A
  hgvsp: ENST00000583482.2:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.153G>A
  hgvsp: ENST00000395529.3:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.153G>A
  hgvsp: ENST00000261503.5:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.153G>A
  hgvsp: ENST00000583528.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys51Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-20013747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013747
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013747
    reference: chr 17
allele count: 2
allele frequency: 1.672800267648043e-5
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.155G>A
  hgvsp: ENSP00000464489.1:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.155G>A
  hgvsp: ENSP00000464341.2:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.155G>A
  hgvsp: ENSP00000463006.2:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.155G>A
  hgvsp: ENSP00000378900.3:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.155G>A
  hgvsp: ENSP00000461918.1:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.313G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.155G>A
  hgvsp: ENSP00000461944.1:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.155G>A
  hgvsp: ENSP00000261503.5:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.155G>A
  hgvsp: ENSP00000378898.4:p.Arg52Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101010G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg52Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-20013765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013765
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013765
    reference: chr 17
allele count: 5
allele frequency: 4.1468309917561e-5
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.331C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.173C>T
  hgvsp: ENSP00000464341.2:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.173C>T
  hgvsp: ENSP00000378900.3:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.173C>T
  hgvsp: ENSP00000463006.2:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.173C>T
  hgvsp: ENSP00000461944.1:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.173C>T
  hgvsp: ENSP00000378898.4:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.173C>T
  hgvsp: ENSP00000464489.1:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101028C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.173C>T
  hgvsp: ENSP00000461918.1:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.173C>T
  hgvsp: ENSP00000261503.5:p.Thr58Met
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr58Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-20013766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013766
    reference: chr 17
allele count: 2
allele frequency: 1.657687525901368e-5
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.332G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101029G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.174G>A
  hgvsp: ENST00000261503.5:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.174G>A
  hgvsp: ENST00000581973.2:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.174G>A
  hgvsp: ENST00000395527.4:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.174G>A
  hgvsp: ENST00000395529.3:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.174G>A
  hgvsp: ENST00000583528.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.174G>A
  hgvsp: ENST00000580934.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.174G>A
  hgvsp: ENST00000583463.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.174G>A
  hgvsp: ENST00000583482.2:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr58Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-20013769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013769
    reference: chr 17
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.177C>T
  hgvsp: ENST00000580934.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101032C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.177C>T
  hgvsp: ENST00000583482.2:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.177C>T
  hgvsp: ENST00000395529.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.177C>T
  hgvsp: ENST00000583463.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.177C>T
  hgvsp: ENST00000261503.5:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.335C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.177C>T
  hgvsp: ENST00000583528.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.177C>T
  hgvsp: ENST00000395527.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.177C>T
  hgvsp: ENST00000581973.2:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu59Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-20013772-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013772
    reference: chr 17
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.180C>G
  hgvsp: ENSP00000261503.5:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.180C>G
  hgvsp: ENSP00000378898.4:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.338C>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.180C>G
  hgvsp: ENSP00000378900.3:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101035C>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.180C>G
  hgvsp: ENSP00000464489.1:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.180C>G
  hgvsp: ENSP00000461918.1:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.180C>G
  hgvsp: ENSP00000463006.2:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.180C>G
  hgvsp: ENSP00000461944.1:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.180C>G
  hgvsp: ENSP00000464341.2:p.Asn60Lys
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn60Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-20013780-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013780
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013780
    reference: chr 17
allele count: 2
allele frequency: 1.653876686954221e-5
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.188G>T
  hgvsp: ENSP00000464489.1:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.188G>T
  hgvsp: ENSP00000261503.5:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.188G>T
  hgvsp: ENSP00000461944.1:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.188G>T
  hgvsp: ENSP00000378900.3:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.188G>T
  hgvsp: ENSP00000464341.2:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.346G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.188G>T
  hgvsp: ENSP00000378898.4:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.188G>T
  hgvsp: ENSP00000461918.1:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101043G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.188G>T
  hgvsp: ENSP00000463006.2:p.Gly63Val
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly63Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

17-20013783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013783
    reference: chr 17
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.191G>A
  hgvsp: ENSP00000461918.1:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.349G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.191G>A
  hgvsp: ENSP00000461944.1:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.191G>A
  hgvsp: ENSP00000378898.4:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101046G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.191G>A
  hgvsp: ENSP00000464489.1:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.191G>A
  hgvsp: ENSP00000463006.2:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.191G>A
  hgvsp: ENSP00000378900.3:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.191G>A
  hgvsp: ENSP00000464341.2:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.191G>A
  hgvsp: ENSP00000261503.5:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser64Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

17-20013787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013787
    reference: chr 17
allele count: 7
allele frequency: 5.791058605513088e-5
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.195C>T
  hgvsp: ENST00000583463.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.195C>T
  hgvsp: ENST00000395527.4:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101050C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.195C>T
  hgvsp: ENST00000395529.3:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.353C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.195C>T
  hgvsp: ENST00000583482.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.195C>T
  hgvsp: ENST00000583528.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.195C>T
  hgvsp: ENST00000261503.5:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.195C>T
  hgvsp: ENST00000580934.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.195C>T
  hgvsp: ENST00000581973.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7531
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr65Thr
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-20013788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013788
    reference: chr 17
allele count: 3
allele frequency: 2.481635894381576e-5
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.196G>A
  hgvsp: ENSP00000261503.5:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.196G>A
  hgvsp: ENSP00000464489.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.196G>A
  hgvsp: ENSP00000378898.4:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.196G>A
  hgvsp: ENSP00000461944.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.196G>A
  hgvsp: ENSP00000378900.3:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.196G>A
  hgvsp: ENSP00000464341.2:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101051G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.196G>A
  hgvsp: ENSP00000461918.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.196G>A
  hgvsp: ENSP00000463006.2:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.354G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala66Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-20013795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013795
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013795
    reference: chr 17
allele count: 2
allele frequency: 1.655930715858849e-5
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.203C>T
  hgvsp: ENSP00000378900.3:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.203C>T
  hgvsp: ENSP00000461944.1:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.203C>T
  hgvsp: ENSP00000463006.2:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.361C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.203C>T
  hgvsp: ENSP00000464341.2:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.203C>T
  hgvsp: ENSP00000464489.1:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.203C>T
  hgvsp: ENSP00000261503.5:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.203C>T
  hgvsp: ENSP00000378898.4:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.203C>T
  hgvsp: ENSP00000461918.1:p.Ser68Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101058C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34922
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser68Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-20013796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013796
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013796
    reference: chr 17
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.204G>A
  hgvsp: ENST00000583528.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.362G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.204G>A
  hgvsp: ENST00000580934.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.204G>A
  hgvsp: ENST00000581973.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.204G>A
  hgvsp: ENST00000583463.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.204G>A
  hgvsp: ENST00000395529.3:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.204G>A
  hgvsp: ENST00000261503.5:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.204G>A
  hgvsp: ENST00000395527.4:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.204G>A
  hgvsp: ENST00000583482.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101059G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser68Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-20013797-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013797
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013797
    reference: chr 17
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.205G>C
  hgvsp: ENSP00000378898.4:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101060G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.205G>C
  hgvsp: ENSP00000464341.2:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.363G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.205G>C
  hgvsp: ENSP00000464489.1:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.205G>C
  hgvsp: ENSP00000378900.3:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.205G>C
  hgvsp: ENSP00000261503.5:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.205G>C
  hgvsp: ENSP00000461944.1:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.205G>C
  hgvsp: ENSP00000461918.1:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.205G>C
  hgvsp: ENSP00000463006.2:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly69Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-20013799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013799
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013799
    reference: chr 17
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.207G>A
  hgvsp: ENST00000261503.5:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.207G>A
  hgvsp: ENST00000581973.2:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101062G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.207G>A
  hgvsp: ENST00000583463.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.207G>A
  hgvsp: ENST00000395527.4:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.207G>A
  hgvsp: ENST00000583482.2:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.207G>A
  hgvsp: ENST00000580934.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.207G>A
  hgvsp: ENST00000583528.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.207G>A
  hgvsp: ENST00000395529.3:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.365G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly69Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

17-20013802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013802
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013802
    reference: chr 17
allele count: 13941
allele frequency: 1.155203844879019e-1
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.210G>A
  hgvsp: ENST00000580934.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.210G>A
  hgvsp: ENST00000581973.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.210G>A
  hgvsp: ENST00000261503.5:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.210G>A
  hgvsp: ENST00000395527.4:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.368G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.210G>A
  hgvsp: ENST00000583528.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.210G>A
  hgvsp: ENST00000395529.3:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.210G>A
  hgvsp: ENST00000583463.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.210G>A
  hgvsp: ENST00000583482.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101065G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 4.75e1
  variant carriers: 834
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 5.25e1
  variant carriers: 1013
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 2.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 581
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 992
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 3.25e1
  variant carriers: 349
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 22926
  bin: 2.75e1
  variant carriers: 308
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.75e1
  variant carriers: 1229
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 795
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.25e1
  variant carriers: 604
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 6.25e1
  variant carriers: 1386
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.25e1
  variant carriers: 1191
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.75e1
  variant carriers: 1347
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 1232
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.25e1
  variant carriers: 413
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 18
hgvs: p.Val70Val
num of homozygotes: 832
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-20013803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013803
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013803
    reference: chr 17
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.211G>A
  hgvsp: ENSP00000461944.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101066G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.211G>A
  hgvsp: ENSP00000378898.4:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.211G>A
  hgvsp: ENSP00000463006.2:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.211G>A
  hgvsp: ENSP00000261503.5:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.211G>A
  hgvsp: ENSP00000464489.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.211G>A
  hgvsp: ENSP00000461918.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.211G>A
  hgvsp: ENSP00000378900.3:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.369G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.211G>A
  hgvsp: ENSP00000464341.2:p.Val71Ile
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val71Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-20013806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013806
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013806
    reference: chr 17
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.372C>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.214C>G
  hgvsp: ENSP00000464489.1:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.214C>G
  hgvsp: ENSP00000378900.3:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.214C>G
  hgvsp: ENSP00000261503.5:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.214C>G
  hgvsp: ENSP00000464341.2:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101069C>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.214C>G
  hgvsp: ENSP00000378898.4:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.214C>G
  hgvsp: ENSP00000461944.1:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.214C>G
  hgvsp: ENSP00000461918.1:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.214C>G
  hgvsp: ENSP00000463006.2:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42233
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg72Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-20013806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013806
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013806
    reference: chr 17
allele count: 4
allele frequency: 3.319557171073379e-5
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.214C>T
  hgvsp: ENSP00000464489.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.214C>T
  hgvsp: ENSP00000378900.3:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.214C>T
  hgvsp: ENSP00000261503.5:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.214C>T
  hgvsp: ENSP00000464341.2:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.214C>T
  hgvsp: ENSP00000378898.4:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.214C>T
  hgvsp: ENSP00000461918.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.214C>T
  hgvsp: ENSP00000463006.2:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461944
  ensembl transcript: ENST00000580934
  gene symbol: SPECC1
  hgvsc: ENST00000580934.1:c.214C>T
  hgvsp: ENSP00000461944.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.372C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101069C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg72Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-20013818-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013818
    reference: chr 17
allele count: 13
allele frequency: 1.10938540048813e-4
allele num: 117182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.226A>C
  hgvsp: ENSP00000461918.1:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.226A>C
  hgvsp: ENSP00000261503.5:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.226A>C
  hgvsp: ENSP00000378900.3:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101081A>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.226A>C
  hgvsp: ENSP00000464489.1:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.226A>C
  hgvsp: ENSP00000378898.4:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.384A>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.226A>C
  hgvsp: ENSP00000464341.2:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.226A>C
  hgvsp: ENSP00000463006.2:p.Thr76Pro
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29726
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr76Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

17-20013820-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013820
    reference: chr 17
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.228C>G
  hgvsp: ENST00000581973.2:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.228C>G
  hgvsp: ENST00000395529.3:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101083C>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.228C>G
  hgvsp: ENST00000395527.4:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.228C>G
  hgvsp: ENST00000583482.2:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.228C>G
  hgvsp: ENST00000261503.5:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.228C>G
  hgvsp: ENST00000583463.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.386C>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.228C>G
  hgvsp: ENST00000583528.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr76Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-20013820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013820
    reference: chr 17
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.228C>T
  hgvsp: ENST00000395529.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.228C>T
  hgvsp: ENST00000395527.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101083C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.228C>T
  hgvsp: ENST00000583528.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.228C>T
  hgvsp: ENST00000583463.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.228C>T
  hgvsp: ENST00000581973.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.228C>T
  hgvsp: ENST00000261503.5:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.228C>T
  hgvsp: ENST00000583482.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.386C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr76Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-20013821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013821
    reference: chr 17
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101084G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.229G>A
  hgvsp: ENSP00000464489.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.229G>A
  hgvsp: ENSP00000378898.4:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.229G>A
  hgvsp: ENSP00000461918.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.229G>A
  hgvsp: ENSP00000378900.3:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.387G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.229G>A
  hgvsp: ENSP00000463006.2:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.229G>A
  hgvsp: ENSP00000261503.5:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.229G>A
  hgvsp: ENSP00000464341.2:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala77Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-20013821-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013821
    reference: chr 17
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.387G>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.229G>T
  hgvsp: ENSP00000461918.1:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.229G>T
  hgvsp: ENSP00000378900.3:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.229G>T
  hgvsp: ENSP00000463006.2:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.229G>T
  hgvsp: ENSP00000464341.2:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.229G>T
  hgvsp: ENSP00000261503.5:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.229G>T
  hgvsp: ENSP00000464489.1:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.229G>T
  hgvsp: ENSP00000378898.4:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101084G>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala77Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-20013825-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013825
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013825
    reference: chr 17
allele count: 2
allele frequency: 1.665695011243441e-5
allele num: 120070
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.233C>A
  hgvsp: ENSP00000261503.5:p.Thr78Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101088C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000461918
  ensembl transcript: ENST00000583528
  gene symbol: SPECC1
  hgvsc: ENST00000583528.1:c.233C>A
  hgvsp: ENSP00000461918.1:p.Thr78Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.233C>A
  hgvsp: ENSP00000378900.3:p.Thr78Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.233C>A
  hgvsp: ENSP00000464489.1:p.Thr78Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.233C>A
  hgvsp: ENSP00000464341.2:p.Thr78Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.391C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.233C>A
  hgvsp: ENSP00000378898.4:p.Thr78Asn
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.233C>A
  hgvsp: ENSP00000463006.2:p.Thr78Asn
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr78Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-20013827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013827
    reference: chr 17
allele count: 1
allele frequency: 8.329585020074299e-6
allele num: 120054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.235G>A
  hgvsp: ENSP00000463006.2:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101090G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.235G>A
  hgvsp: ENSP00000261503.5:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.235G>A
  hgvsp: ENSP00000464341.2:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.235G>A
  hgvsp: ENSP00000378898.4:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.393G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.235G>A
  hgvsp: ENSP00000464489.1:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.235G>A
  hgvsp: ENSP00000378900.3:p.Ala79Thr
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala79Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-20013828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013828
    reference: chr 17
allele count: 59
allele frequency: 4.917076423035253e-4
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101091C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.236C>T
  hgvsp: ENSP00000464489.1:p.Ala79Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.236C>T
  hgvsp: ENSP00000464341.2:p.Ala79Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.394C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.236C>T
  hgvsp: ENSP00000378900.3:p.Ala79Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.236C>T
  hgvsp: ENSP00000463006.2:p.Ala79Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.236C>T
  hgvsp: ENSP00000261503.5:p.Ala79Val
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.236C>T
  hgvsp: ENSP00000378898.4:p.Ala79Val
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala79Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-20013829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013829
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013829
    reference: chr 17
allele count: 33
allele frequency: 2.750412561884283e-4
allele num: 119982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101092C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.237C>T
  hgvsp: ENST00000261503.5:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.395C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.237C>T
  hgvsp: ENST00000395529.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.237C>T
  hgvsp: ENST00000395527.4:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.237C>T
  hgvsp: ENST00000583463.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.237C>T
  hgvsp: ENST00000581973.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.237C>T
  hgvsp: ENST00000583482.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31349
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala79Ala
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-20013830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013830
    reference: chr 17
allele count: 2
allele frequency: 1.667639456349537e-5
allele num: 119930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.238G>A
  hgvsp: ENSP00000464341.2:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.238G>A
  hgvsp: ENSP00000464489.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.238G>A
  hgvsp: ENSP00000378898.4:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.238G>A
  hgvsp: ENSP00000378900.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.238G>A
  hgvsp: ENSP00000261503.5:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.238G>A
  hgvsp: ENSP00000463006.2:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.396G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101093G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly80Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-20013830-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013830
    reference: chr 17
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.238G>C
  hgvsp: ENSP00000463006.2:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.396G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101093G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.238G>C
  hgvsp: ENSP00000464489.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.238G>C
  hgvsp: ENSP00000464341.2:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.238G>C
  hgvsp: ENSP00000261503.5:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.238G>C
  hgvsp: ENSP00000378898.4:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.238G>C
  hgvsp: ENSP00000378900.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44058
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly80Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-20013840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013840
    reference: chr 17
allele count: 4
allele frequency: 3.362079109721452e-5
allele num: 118974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.248C>T
  hgvsp: ENSP00000378898.4:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.248C>T
  hgvsp: ENSP00000464341.2:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.248C>T
  hgvsp: ENSP00000464489.1:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.248C>T
  hgvsp: ENSP00000378900.3:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.406C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.248C>T
  hgvsp: ENSP00000261503.5:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.248C>T
  hgvsp: ENSP00000463006.2:p.Ser83Leu
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101103C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser83Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-20013849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013849
    reference: chr 17
allele count: 2
allele frequency: 1.691761123329386e-5
allele num: 118220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.257C>T
  hgvsp: ENSP00000463006.2:p.Thr86Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.415C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.257C>T
  hgvsp: ENSP00000261503.5:p.Thr86Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.257C>T
  hgvsp: ENSP00000464489.1:p.Thr86Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.257C>T
  hgvsp: ENSP00000378898.4:p.Thr86Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.257C>T
  hgvsp: ENSP00000378900.3:p.Thr86Met
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101112C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.257C>T
  hgvsp: ENSP00000464341.2:p.Thr86Met
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr86Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

17-20013850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013850
    reference: chr 17
allele count: 4
allele frequency: 3.383407768304236e-5
allele num: 118224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.258G>A
  hgvsp: ENST00000581973.2:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.258G>A
  hgvsp: ENST00000395529.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101113G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.258G>A
  hgvsp: ENST00000583463.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.258G>A
  hgvsp: ENST00000261503.5:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.416G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.258G>A
  hgvsp: ENST00000583482.2:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.258G>A
  hgvsp: ENST00000395527.4:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Thr86Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-20013852-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013852
    reference: chr 17
allele count: 2
allele frequency: 1.695950071229903e-5
allele num: 117928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.260A>G
  hgvsp: ENSP00000463006.2:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.260A>G
  hgvsp: ENSP00000378900.3:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.260A>G
  hgvsp: ENSP00000378898.4:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.260A>G
  hgvsp: ENSP00000464489.1:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.418A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.260A>G
  hgvsp: ENSP00000464341.2:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.260A>G
  hgvsp: ENSP00000261503.5:p.Glu87Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101115A>G
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu87Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-20013857-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013857
    reference: chr 17
allele count: 2
allele frequency: 1.711566768219628e-5
allele num: 116852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.265C>A
  hgvsp: ENSP00000463006.2:p.Arg89Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.265C>A
  hgvsp: ENSP00000378898.4:p.Arg89Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.265C>A
  hgvsp: ENSP00000464489.1:p.Arg89Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.423C>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.265C>A
  hgvsp: ENSP00000378900.3:p.Arg89Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.265C>A
  hgvsp: ENSP00000261503.5:p.Arg89Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.265C>A
  hgvsp: ENSP00000464341.2:p.Arg89Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101120C>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg89Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-20013857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013857
    reference: chr 17
allele count: 4
allele frequency: 3.423133536439257e-5
allele num: 116852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.265C>T
  hgvsp: ENSP00000464341.2:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.265C>T
  hgvsp: ENSP00000378898.4:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.423C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.265C>T
  hgvsp: ENSP00000464489.1:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.265C>T
  hgvsp: ENSP00000261503.5:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.265C>T
  hgvsp: ENSP00000463006.2:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101120C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.265C>T
  hgvsp: ENSP00000378900.3:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg89Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

17-20013858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013858
    reference: chr 17
allele count: 8
allele frequency: 6.887645286267757e-5
allele num: 116150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.266G>A
  hgvsp: ENSP00000463006.2:p.Arg89His
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.424G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.266G>A
  hgvsp: ENSP00000261503.5:p.Arg89His
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101121G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.266G>A
  hgvsp: ENSP00000464341.2:p.Arg89His
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.266G>A
  hgvsp: ENSP00000464489.1:p.Arg89His
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.266G>A
  hgvsp: ENSP00000378898.4:p.Arg89His
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.266G>A
  hgvsp: ENSP00000378900.3:p.Arg89His
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28798
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39764
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg89His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-20013859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013859
    reference: chr 17
allele count: 4
allele frequency: 3.443170471370037e-5
allele num: 116172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101122C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.267C>T
  hgvsp: ENST00000261503.5:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.267C>T
  hgvsp: ENST00000581973.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.267C>T
  hgvsp: ENST00000395529.3:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.267C>T
  hgvsp: ENST00000583463.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.267C>T
  hgvsp: ENST00000395527.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.425C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.267C>T
  hgvsp: ENST00000583482.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg89Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-20013861-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013861
    reference: chr 17
allele count: 1
allele frequency: 8.646330497336931e-6
allele num: 115656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.269T>C
  hgvsp: ENSP00000463006.2:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.269T>C
  hgvsp: ENSP00000464341.2:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.427T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.269T>C
  hgvsp: ENSP00000464489.1:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101124T>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.269T>C
  hgvsp: ENSP00000378900.3:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.269T>C
  hgvsp: ENSP00000261503.5:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.269T>C
  hgvsp: ENSP00000378898.4:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu90Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-20013863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013863
    reference: chr 17
allele count: 1
allele frequency: 8.68311828143723e-6
allele num: 115166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.271A>G
  hgvsp: ENSP00000464489.1:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.271A>G
  hgvsp: ENSP00000378898.4:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.271A>G
  hgvsp: ENSP00000463006.2:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.271A>G
  hgvsp: ENSP00000378900.3:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.271A>G
  hgvsp: ENSP00000464341.2:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.429A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101126A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.271A>G
  hgvsp: ENSP00000261503.5:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg91Gly
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-20013864-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013864
    reference: chr 17
allele count: 1
allele frequency: 8.706857520983527e-6
allele num: 114852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.272G>C
  hgvsp: ENSP00000464341.2:p.Arg91Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.430G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.272G>C
  hgvsp: ENSP00000464489.1:p.Arg91Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.272G>C
  hgvsp: ENSP00000261503.5:p.Arg91Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.272G>C
  hgvsp: ENSP00000378900.3:p.Arg91Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.272G>C
  hgvsp: ENSP00000463006.2:p.Arg91Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.272G>C
  hgvsp: ENSP00000378898.4:p.Arg91Thr
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101127G>C
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27651
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg91Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-20013865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013865
    reference: chr 17
allele count: 1
allele frequency: 8.752122389679497e-6
allele num: 114258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.273G>A
  hgvsp: ENST00000261503.5:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.273G>A
  hgvsp: ENST00000581973.2:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.431G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.273G>A
  hgvsp: ENST00000395527.4:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101128G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.273G>A
  hgvsp: ENST00000583482.2:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.273G>A
  hgvsp: ENST00000583463.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.273G>A
  hgvsp: ENST00000395529.3:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg91Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-20013868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013868
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013868
    reference: chr 17
allele count: 4
allele frequency: 3.526963637004903e-5
allele num: 113412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.434C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.276C>T
  hgvsp: ENST00000261503.5:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.276C>T
  hgvsp: ENST00000395529.3:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.276C>T
  hgvsp: ENST00000583482.2:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.276C>T
  hgvsp: ENST00000395527.4:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101131C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.276C>T
  hgvsp: ENST00000581973.2:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.276C>T
  hgvsp: ENST00000583463.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser92Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-20013869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013869
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013869
    reference: chr 17
allele count: 1
allele frequency: 8.900122821694939e-6
allele num: 112358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.277G>A
  hgvsp: ENSP00000464489.1:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101132G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.435G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.277G>A
  hgvsp: ENSP00000463006.2:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.277G>A
  hgvsp: ENSP00000378898.4:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.277G>A
  hgvsp: ENSP00000464341.2:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.277G>A
  hgvsp: ENSP00000378900.3:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.277G>A
  hgvsp: ENSP00000261503.5:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25476
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly93Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-20013870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013870
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013870
    reference: chr 17
allele count: 1
allele frequency: 8.908209806157355e-6
allele num: 112256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.278G>A
  hgvsp: ENSP00000378900.3:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.278G>A
  hgvsp: ENSP00000464341.2:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.278G>A
  hgvsp: ENSP00000463006.2:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.278G>A
  hgvsp: ENSP00000378898.4:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.278G>A
  hgvsp: ENSP00000464489.1:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101133G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.436G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.278G>A
  hgvsp: ENSP00000261503.5:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25543
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly93Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

17-20013882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013882
    reference: chr 17
allele count: 53
allele frequency: 4.992088011453545e-4
allele num: 106168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+7G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+7G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+7G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+7G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101145G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+7G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+7G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+7G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19207
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14752
  bin: 2.25e1
  variant carriers: 0
hgvs: c.283+7G>A
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-20013884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013884
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013884
    reference: chr 17
allele count: 1
allele frequency: 9.513661618083569e-6
allele num: 105112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+9G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+9G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101147G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+9G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+9G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+9G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+9G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+9G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-20013887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013887
    reference: chr 17
allele count: 3
allele frequency: 2.895585197768469e-5
allele num: 103606
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+12C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+12C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+12C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+12C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+12C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+12C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+12C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101150C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16328
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-20013888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013888
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013888
    reference: chr 17
allele count: 399
allele frequency: 3.893822582219186e-3
allele num: 102470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+13G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+13G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101151G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+13G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+13G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+13G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+13G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+13G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 2.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17552
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 2.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 3
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-20013896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013896
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013896
    reference: chr 17
allele count: 133
allele frequency: 1.352533203164724e-3
allele num: 98334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+21G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+21G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+21G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+21G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+21G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+21G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101159G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+21G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22425
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.75e1
  variant carriers: 134
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20323
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
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: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-20013901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013901
    reference: chr 17
allele count: 5
allele frequency: 5.186399186772608e-5
allele num: 96406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+26C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+26C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+26C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+26C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+26C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+26C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101164C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+26C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7765
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-20013902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013902
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013902
    reference: chr 17
allele count: 2
allele frequency: 2.087464774031938e-5
allele num: 95810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101165G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+27G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+27G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+27G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+27G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+27G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+27G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+27G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23028
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-20013906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013906
    reference: chr 17
allele count: 21
allele frequency: 2.22034256713893e-4
allele num: 94580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+31G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+31G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101169G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+31G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+31G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+31G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+31G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+31G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23568
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 10130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21087
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS

17-20013914-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013914
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013914
    reference: chr 17
allele count: 2
allele frequency: 2.207797942332318e-5
allele num: 90588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+39G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+39G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+39G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101177G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+39G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+39G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+39G>C
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+39G>C
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22916
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19389
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-20013922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013922
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013922
    reference: chr 17
allele count: 27
allele frequency: 3.192319515713306e-4
allele num: 84578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+47C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+47C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101185C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+47C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+47C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+47C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+47C>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+47C>T
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21152
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 2
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

17-20013923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013923
    reference: chr 17
allele count: 2
allele frequency: 2.414875633904854e-5
allele num: 82820
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+48G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+48G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+48G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+48G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101186G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+48G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+48G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+48G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21044
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15095
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-20013925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20013925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20013925
    reference: chr 17
allele count: 2
allele frequency: 2.372479240806643e-5
allele num: 84300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+50A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+50A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+50A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+50A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.81+101188A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+50A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+50A>G
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+50A>G
  variant of: http://identifiers.org/hgnc/30615
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-20059463-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20059463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20059463
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 5360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+45588A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463130
  ensembl transcript: ENST00000467722
  gene symbol: SPECC1
  hgvsc: ENST00000467722.2:c.-47A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+45588A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378893
  ensembl transcript: ENST00000395522
  gene symbol: SPECC1
  hgvsc: ENST00000395522.2:c.-47A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378901
  ensembl transcript: ENST00000395530
  gene symbol: SPECC1
  hgvsc: ENST00000395530.2:c.-47A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+45588A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000579688
  gene symbol: SPECC1
  hgvsc: ENST00000579688.1:n.136+273A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000582063
  gene symbol: SPECC1
  hgvsc: ENST00000582063.1:n.174+639A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+45588A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000438294
  ensembl transcript: ENST00000536879
  gene symbol: SPECC1
  hgvsc: ENST00000536879.1:c.-204A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378896
  ensembl transcript: ENST00000395525
  gene symbol: SPECC1
  hgvsc: ENST00000395525.3:c.-47A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+45588A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+45588A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.82-71263A>T
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+45588A>T
  variant of: http://identifiers.org/hgnc/30615
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-20059467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20059467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 20059467
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 5370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378898
  ensembl transcript: ENST00000395527
  gene symbol: SPECC1
  hgvsc: ENST00000395527.4:c.283+45592G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378896
  ensembl transcript: ENST00000395525
  gene symbol: SPECC1
  hgvsc: ENST00000395525.3:c.-43G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378901
  ensembl transcript: ENST00000395530
  gene symbol: SPECC1
  hgvsc: ENST00000395530.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378900
  ensembl transcript: ENST00000395529
  gene symbol: SPECC1
  hgvsc: ENST00000395529.3:c.283+45592G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000438294
  ensembl transcript: ENST00000536879
  gene symbol: SPECC1
  hgvsc: ENST00000536879.1:c.-200G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000472876
  gene symbol: SPECC1
  hgvsc: ENST00000472876.1:n.82-71259G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000579688
  gene symbol: SPECC1
  hgvsc: ENST00000579688.1:n.136+277G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463130
  ensembl transcript: ENST00000467722
  gene symbol: SPECC1
  hgvsc: ENST00000467722.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000582063
  gene symbol: SPECC1
  hgvsc: ENST00000582063.1:n.174+643G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000463006
  ensembl transcript: ENST00000583482
  gene symbol: SPECC1
  hgvsc: ENST00000583482.2:c.283+45592G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000261503
  ensembl transcript: ENST00000261503
  gene symbol: SPECC1
  hgvsc: ENST00000261503.5:c.283+45592G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000378893
  ensembl transcript: ENST00000395522
  gene symbol: SPECC1
  hgvsc: ENST00000395522.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl transcript: ENST00000413167
  gene symbol: SPECC1
  hgvsc: ENST00000413167.2:n.441+45592G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464341
  ensembl transcript: ENST00000581973
  gene symbol: SPECC1
  hgvsc: ENST00000581973.2:c.283+45592G>A
  variant of: http://identifiers.org/hgnc/30615
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128487
  ensembl protein: ENSP00000464489
  ensembl transcript: ENST00000583463
  gene symbol: SPECC1
  hgvsc: ENST00000583463.1:c.283+45592G>A
  variant of: http://identifiers.org/hgnc/30615
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12087
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 262
bin: 5.25e1
variant carriers: 241

GenotypeQuality
all individuals: 1229
bin: 2.25e1
variant carriers: 69

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 128

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 111

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 37

GenotypeQuality
all individuals: 384
bin: 3.25e1
variant carriers: 99

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 80

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 85

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 216

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 16

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 109

GenotypeQuality
all individuals: 297
bin: 6.75e1
variant carriers: 170

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 154

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 110

GenotypeQuality
all individuals: 55179
bin: 9.75e1
variant carriers: 42106

Other
type: Population
allele count: 435
allele frequency: 4.943181818181818e-1
allele num: 880
num of homozygotes: 97

European (Finnish)
type: Population
allele count: 3160
allele frequency: 4.779189352692075e-1
allele num: 6612
num of homozygotes: 767

European (Non-Finnish)
type: Population
allele count: 37548
allele frequency: 5.67258883248731e-1
allele num: 66192
num of homozygotes: 10607

Latino
type: Population
allele count: 5698
allele frequency: 4.934187738136474e-1
allele num: 11548
num of homozygotes: 1399

South Asian
type: Population
allele count: 5980
allele frequency: 3.883621249512924e-1
allele num: 15398
num of homozygotes: 1167

African
type: Population
allele count: 4505
allele frequency: 4.446308724832215e-1
allele num: 10132
num of homozygotes: 1007

East Asian
type: Population
allele count: 1697
allele frequency: 1.972797023947919e-1
allele num: 8602
num of homozygotes: 168

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.74e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.326e0

QD
type: SiteQuality
SIO_000300: 2.059e1

DP
type: SiteQuality
SIO_000300: 5.638606e6

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

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

GenotypeQuality
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3764
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.015434606011373e-4
allele num: 9848
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13968
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.76468e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.621e0

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 5.886e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.565e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.777e0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48173
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.342143906020558e-5
allele num: 13620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.691834348655467e-5
allele num: 65004
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.166e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.748e0

DP
type: SiteQuality
SIO_000300: 3.757217e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48173
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3581
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.208275220827522e-3
allele num: 8604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65004
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.166e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 3.757217e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.748e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

GenotypeQuality
all individuals: 725
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48164
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 400
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64726
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737921445950643e-4
allele num: 11508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 3.751509e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.127e0

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

GenotypeQuality
all individuals: 868
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 3
allele frequency: 3.125e-4
allele num: 9600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.502e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.512e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551349674216568e-5
allele num: 64460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.81e-1

ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 3.0e-3

DP
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SIO_000300: 3.746798e6

VQSLOD
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SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64460
num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 12716
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 8.49e-1

QD
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SIO_000300: 1.287e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65052
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 2.146193e6

MQRankSum
type: SiteQuality
SIO_000300: -1.115e0

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: -7.962e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 4.156e0

GenotypeQuality
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variant carriers: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.187648456057007e-3
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65228
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.155e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

DP
type: SiteQuality
SIO_000300: 2.156294e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65858
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
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FS
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.948e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65890
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 7.029382820188388e-5
allele num: 14226
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

Latino
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 872
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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allele num: 8652
num of homozygotes: 0

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

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

Other
type: Population
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African
type: Population
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allele frequency: 9.645061728395061e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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DP
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SIO_000300: 2.200761e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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: 6.53851183470642e-5
allele num: 15294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

DP
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SIO_000300: 2.202336e6

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8650
num of homozygotes: 0

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 count: 1
allele frequency: 6.234413965087281e-5
allele num: 16040
num of homozygotes: 0

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

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

African
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allele count: 3
allele frequency: 2.889616644191871e-4
allele num: 10382
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.216397e6

VQSLOD
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QD
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SIO_000300: 1.312e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQRankSum
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SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

FS
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

QD
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SIO_000300: 1.118e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

DP
type: SiteQuality
SIO_000300: 2.216337e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 373
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
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

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

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 4.111e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.77e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.217898e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7573
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 3.6e-3

DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.444e1

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: -2.208e0

FS
type: SiteQuality
SIO_000300: 2.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
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

South Asian
type: Population
allele count: 1
allele frequency: 6.119202056051891e-5
allele num: 16342
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Other
type: Population
allele count: 1
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allele num: 898
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QD
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SIO_000300: 1.298e1

BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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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 count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 3.4e-3

FS
type: SiteQuality
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VQSLOD
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6

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

South Asian
type: Population
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allele frequency: 1.832172957127153e-4
allele num: 16374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.021738475897992e-5
allele num: 66426
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East Asian
type: Population
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Other
type: Population
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QD
type: SiteQuality
SIO_000300: 1.593e1

MQ
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11196
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 3.595e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 2.21215e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.875e0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11174
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 7.25e1
variant carriers: 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: 6570
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.291e0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.205567e6

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11176
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1828
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

FS
type: SiteQuality
SIO_000300: 1.565e0

QD
type: SiteQuality
SIO_000300: 8.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

DP
type: SiteQuality
SIO_000300: 2.204174e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.691e0

GenotypeQuality
all individuals: 187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7398
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34762
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 989
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11175
bin: 9.75e1
variant carriers: 1

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.200393e6

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.599e0

FS
type: SiteQuality
SIO_000300: 2.1498e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

GenotypeQuality
all individuals: 34806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.038e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.236e0

DP
type: SiteQuality
SIO_000300: 2.199266e6

QD
type: SiteQuality
SIO_000300: 1.462e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1158
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1562
bin: 7.75e1
variant carriers: 16

GenotypeQuality
all individuals: 33662
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13641
bin: 9.75e1
variant carriers: 13011

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7045
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 695
bin: 8.25e1
variant carriers: 18

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 5

African
type: Population
allele count: 853
allele frequency: 8.297665369649805e-2
allele num: 10280
num of homozygotes: 30

East Asian
type: Population
allele count: 918
allele frequency: 1.065706988623172e-1
allele num: 8614
num of homozygotes: 46

European (Non-Finnish)
type: Population
allele count: 8287
allele frequency: 1.250037710803391e-1
allele num: 66294
num of homozygotes: 536

Other
type: Population
allele count: 78
allele frequency: 8.647450110864745e-2
allele num: 902
num of homozygotes: 3

South Asian
type: Population
allele count: 1585
allele frequency: 9.64346556339742e-2
allele num: 16436
num of homozygotes: 91

Latino
type: Population
allele count: 1463
allele frequency: 1.267764298093587e-1
allele num: 11540
num of homozygotes: 89

European (Finnish)
type: Population
allele count: 757
allele frequency: 1.144541880858784e-1
allele num: 6614
num of homozygotes: 37

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.197272e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.046e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.511e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.965e0

FS
type: SiteQuality
SIO_000300: 1.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 1.690736e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.257e1

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

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
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: 8636
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: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512264464809606e-5
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 7.0e-4

QD
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SIO_000300: 1.295e1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.682415e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 900
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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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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European (Non-Finnish)
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allele frequency: 6.049057859238423e-5
allele num: 66126
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.092759686534079e-4
allele num: 64058
num of homozygotes: 0

African
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allele frequency: 2.077274615704196e-4
allele num: 9628
num of homozygotes: 0

East Asian
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allele frequency: 1.16767865483419e-4
allele num: 8564
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European (Finnish)
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allele count: 2
allele frequency: 3.221649484536082e-4
allele num: 6208
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Other
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allele count: 1
allele frequency: 1.176470588235294e-3
allele num: 850
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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FS
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QD
type: SiteQuality
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ClippingRankSum
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DP
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ReadPosRankSum
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SIO_000300: 3.1e-2

MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518095700752976e-5
allele num: 65872
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 9.606e0

MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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DP
type: SiteQuality
SIO_000300: 1.645382e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
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 count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.645382e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
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Latino
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allele num: 11552
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 7.0e-4

QD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Finnish)
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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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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65810
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Other
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South Asian
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African
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16416
num of homozygotes: 0

European (Non-Finnish)
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Other
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Latino
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African
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European (Finnish)
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East Asian
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele num: 65812
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Latino
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Other
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South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.513225904530252e-4
allele num: 65780
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 1.644119e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

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

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

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8729
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 2024
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65776
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 29
allele frequency: 1.767645983176886e-3
allele num: 16406
num of homozygotes: 2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.339e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 1.642301e6

GenotypeQuality
all individuals: 8721
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
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variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-5
allele num: 65740
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.640965e6

FS
type: SiteQuality
SIO_000300: 5.123e0

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.988e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 2017
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8721
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.988e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 5.123e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.640965e6

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
all individuals: 1749
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variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 42504
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.136475208640157e-5
allele num: 65184
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: 6514
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

DP
type: SiteQuality
SIO_000300: 1.615635e6

FS
type: SiteQuality
SIO_000300: 3.878e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544067691927614e-5
allele num: 64764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.594676e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.161e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 5.217e0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543781647523774e-5
allele num: 64776
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.510414228879008e-4
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.593344e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
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GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42089
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546981838433217e-5
allele num: 64642
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.552795031055901e-4
allele num: 6440
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

QD
type: SiteQuality
SIO_000300: 1.142e1

DP
type: SiteQuality
SIO_000300: 1.584823e6

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 6.244e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.26055716626749e-4
allele num: 15866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64104
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 1.559044e6

FS
type: SiteQuality
SIO_000300: 2.016e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.239860227130913e-5
allele num: 64104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.559044e6

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 1.243e1

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 391
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variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.164556962025317e-4
allele num: 6320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.414127467285908e-5
allele num: 63734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e0

DP
type: SiteQuality
SIO_000300: 1.542937e6

GenotypeQuality
all individuals: 1648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 307
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.079135223332653e-4
allele num: 9806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.540786e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.981e0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 5427
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
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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
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GenotypeQuality
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GenotypeQuality
all individuals: 203
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GenotypeQuality
all individuals: 1627
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.197604790419162e-4
allele num: 8350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63520
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.528162e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

GenotypeQuality
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 619
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variant carriers: 1

GenotypeQuality
all individuals: 925
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.431695394906098e-5
allele num: 15548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.514783e6

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

QD
type: SiteQuality
SIO_000300: 8.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

FS
type: SiteQuality
SIO_000300: 8.211e0

VQSLOD
type: SiteQuality
SIO_000300: -7.195e-1

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7218
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variant carriers: 0

GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583481124904991e-5
allele num: 63152
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.246e1

MQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

DP
type: SiteQuality
SIO_000300: 1.507385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.248e0

VQSLOD
type: SiteQuality
SIO_000300: -8.77e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.468e0

FS
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 1554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 617
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variant carriers: 1

GenotypeQuality
all individuals: 1078
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591748376416656e-5
allele num: 62824
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.063e0

DP
type: SiteQuality
SIO_000300: 1.492593e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 1.724e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36848
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GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.165902841429881e-5
allele num: 10910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.2044092671516e-5
allele num: 62414
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.536802196365538e-5
allele num: 15298
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.471859e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 632
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GenotypeQuality
all individuals: 604
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61844
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.239771881973717e-4
allele num: 8066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.574e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.444927e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 776
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35382
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61796589327897e-5
allele num: 61806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.442952e6

QD
type: SiteQuality
SIO_000300: 1.06e1

GenotypeQuality
all individuals: 26620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4949
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3191
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.009489198465576e-4
allele num: 9906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.3003300330033e-4
allele num: 9090
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 8.355382258738338e-4
allele num: 14362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 6.300446139699622e-4
allele num: 58726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.264175e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.36e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719217412233951e-5
allele num: 58166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.223172e6

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 9.032999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.893e-1

QD
type: SiteQuality
SIO_000300: 1.006e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

GenotypeQuality
all individuals: 763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 337
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.125365743866757e-4
allele num: 8886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.169486664754803e-5
allele num: 13948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.03950103950104e-4
allele num: 9620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 9.725e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.186243e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeQuality
all individuals: 691
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17978
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19849
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 346
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 9.75e1
variant carriers: 390

GenotypeQuality
all individuals: 679
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 964
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4712
bin: 3.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

South Asian
type: Population
allele count: 85
allele frequency: 6.137184115523465e-3
allele num: 13850
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.586294416243655e-3
allele num: 9456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.645643456069996e-4
allele num: 5486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 290
allele frequency: 5.103657034247299e-3
allele num: 56822
num of homozygotes: 3

African
type: Population
allele count: 5
allele frequency: 5.688282138794084e-4
allele num: 8790
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.590673575129534e-3
allele num: 772
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.482e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 1.142428e6

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6938
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 124
allele frequency: 2.273227249395028e-3
allele num: 54548
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.209456473707468e-4
allele num: 9052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6990
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.773584905660377e-4
allele num: 13250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.905487804878049e-4
allele num: 5248
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 9.96473e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

FS
type: SiteQuality
SIO_000300: 9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.476e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

GenotypeQuality
all individuals: 267
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 12210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.870568199411674e-4
allele num: 12918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 9.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 1.203e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 9.64787e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 989
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5811
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.87694733285784e-5
allele num: 53278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8746
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.780890133831311e-5
allele num: 12852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.53986e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

QD
type: SiteQuality
SIO_000300: 1.091e1

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 906
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4467
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7813
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.474926253687316e-3
allele num: 678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.778656126482213e-3
allele num: 5060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.088872009115078e-4
allele num: 52660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.19112e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 8.179999999999999e-1

GenotypeQuality
all individuals: 1943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6384
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5697
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.951007506914263e-5
allele num: 50620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12038
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.766e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.88e-2

FS
type: SiteQuality
SIO_000300: 3.081e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

DP
type: SiteQuality
SIO_000300: 8.6216e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 947
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 735
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 558
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 380
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.318565400843882e-4
allele num: 7584
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.726519337016575e-4
allele num: 5792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 2.148997134670487e-3
allele num: 11168
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.102076851929706e-5
allele num: 47572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 8.32926e5

QD
type: SiteQuality
SIO_000300: 1.494e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.299226139294927e-5
allele num: 46520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.71e0

FS
type: SiteQuality
SIO_000300: 6.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.30665e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.201e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
all individuals: 6361
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1671
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47376
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.443526170798898e-4
allele num: 5808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

DP
type: SiteQuality
SIO_000300: 8.2946e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

GenotypeDepth
all individuals: 1697
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7191
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26491
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4939
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2124
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 7.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.666e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 2.10173e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1