2-202195177-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195177
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195177
    reference: chr 2
allele count: 2
allele frequency: 1.69834072111547e-5
allele num: 117762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1177+16C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.675+16C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.333+16C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.675+16C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.675+16C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.675+16C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.624+16C>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

2-202195180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195180
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195180
    reference: chr 2
allele count: 1
allele frequency: 8.482051978014521e-6
allele num: 117896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.675+13G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.675+13G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.675+13G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.333+13G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1177+13G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.675+13G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.624+13G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS

2-202195190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195190
    reference: chr 2
allele count: 10
allele frequency: 8.445517963616708e-5
allele num: 118406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.624+3G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1177+3G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.675+3G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.675+3G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.675+3G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.333+3G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.675+3G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29760
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5719
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
hgvs: c.675+3G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

2-202195194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195194
    reference: chr 2
allele count: 8
allele frequency: 6.743884140070474e-5
allele num: 118626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1176A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.674A>G
  hgvsp: ENSP00000385098.2:p.Gln225Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.332A>G
  hgvsp: ENSP00000393945.1:p.Gln111Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.623A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.674A>G
  hgvsp: ENSP00000286190.5:p.Gln225Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.674A>G
  hgvsp: ENSP00000412073.1:p.Gln225Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.674A>G
  hgvsp: ENSP00000376086.3:p.Gln225Arg
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29849
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln225Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

2-202195196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195196
    reference: chr 2
allele count: 1
allele frequency: 8.420910805712745e-6
allele num: 118752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1174T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.672T>C
  hgvsp: ENST00000392257.3:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.672T>C
  hgvsp: ENST00000405148.2:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.330T>C
  hgvsp: ENST00000425488.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.672T>C
  hgvsp: ENST00000439709.1:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.672T>C
  hgvsp: ENST00000286190.5:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.621T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14591
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr224Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-202195197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195197
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195197
    reference: chr 2
allele count: 1
allele frequency: 8.415808254224735e-6
allele num: 118824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.671A>G
  hgvsp: ENSP00000412073.1:p.Tyr224Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.671A>G
  hgvsp: ENSP00000376086.3:p.Tyr224Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.329A>G
  hgvsp: ENSP00000393945.1:p.Tyr110Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1173A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.671A>G
  hgvsp: ENSP00000385098.2:p.Tyr224Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.620A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.671A>G
  hgvsp: ENSP00000286190.5:p.Tyr224Cys
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr224Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-202195199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195199
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195199
    reference: chr 2
allele count: 34
allele frequency: 2.859978802510052e-4
allele num: 118882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.669G>A
  hgvsp: ENST00000286190.5:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.327G>A
  hgvsp: ENST00000425488.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.669G>A
  hgvsp: ENST00000405148.2:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1171G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.669G>A
  hgvsp: ENST00000439709.1:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.618G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.669G>A
  hgvsp: ENST00000392257.3:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29927
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr223Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-202195200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195200
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195200
    reference: chr 2
allele count: 3
allele frequency: 2.521856086079354e-5
allele num: 118960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.326C>T
  hgvsp: ENSP00000393945.1:p.Thr109Met
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1170C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.668C>T
  hgvsp: ENSP00000412073.1:p.Thr223Met
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.617C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.668C>T
  hgvsp: ENSP00000286190.5:p.Thr223Met
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.668C>T
  hgvsp: ENSP00000376086.3:p.Thr223Met
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.668C>T
  hgvsp: ENSP00000385098.2:p.Thr223Met
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14847
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5773
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr223Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

2-202195203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195203
    reference: chr 2
allele count: 2
allele frequency: 1.679402132840709e-5
allele num: 119090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.323G>A
  hgvsp: ENSP00000393945.1:p.Arg108His
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.614G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.665G>A
  hgvsp: ENSP00000286190.5:p.Arg222His
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.665G>A
  hgvsp: ENSP00000412073.1:p.Arg222His
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.665G>A
  hgvsp: ENSP00000385098.2:p.Arg222His
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1167G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.665G>A
  hgvsp: ENSP00000376086.3:p.Arg222His
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30072
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg222His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-202195204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195204
    reference: chr 2
allele count: 14
allele frequency: 1.175048680588196e-4
allele num: 119144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1166C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.664C>T
  hgvsp: ENSP00000412073.1:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.664C>T
  hgvsp: ENSP00000376086.3:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.664C>T
  hgvsp: ENSP00000385098.2:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.613C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.322C>T
  hgvsp: ENSP00000393945.1:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.664C>T
  hgvsp: ENSP00000286190.5:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30052
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg222Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-202195210-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195210
    reference: chr 2
allele count: 1
allele frequency: 8.377875705836028e-6
allele num: 119362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.316A>C
  hgvsp: ENSP00000393945.1:p.Met106Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.658A>C
  hgvsp: ENSP00000376086.3:p.Met220Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.658A>C
  hgvsp: ENSP00000412073.1:p.Met220Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.658A>C
  hgvsp: ENSP00000385098.2:p.Met220Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1160A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.607A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.658A>C
  hgvsp: ENSP00000286190.5:p.Met220Leu
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met220Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

2-202195223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195223
    reference: chr 2
allele count: 2
allele frequency: 1.67372420372571e-5
allele num: 119494
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.645G>A
  hgvsp: ENST00000405148.2:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.303G>A
  hgvsp: ENST00000425488.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.645G>A
  hgvsp: ENST00000439709.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.594G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1147G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.645G>A
  hgvsp: ENST00000392257.3:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.645G>A
  hgvsp: ENST00000286190.5:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29980
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys215Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-202195227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195227
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195227
    reference: chr 2
allele count: 1
allele frequency: 8.366520531441385e-6
allele num: 119524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.641A>G
  hgvsp: ENSP00000376086.3:p.Tyr214Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.641A>G
  hgvsp: ENSP00000385098.2:p.Tyr214Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.641A>G
  hgvsp: ENSP00000412073.1:p.Tyr214Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.641A>G
  hgvsp: ENSP00000286190.5:p.Tyr214Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1143A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.299A>G
  hgvsp: ENSP00000393945.1:p.Tyr100Cys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.590A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr214Cys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-202195231-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195231
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195231
    reference: chr 2
allele count: 5
allele frequency: 4.184800803481755e-5
allele num: 119480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.637G>T
  hgvsp: ENSP00000376086.3:p.Glu213Ter
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.637G>T
  hgvsp: ENSP00000385098.2:p.Glu213Ter
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.637G>T
  hgvsp: ENSP00000286190.5:p.Glu213Ter
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.295G>T
  hgvsp: ENSP00000393945.1:p.Glu99Ter
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.637G>T
  hgvsp: ENSP00000412073.1:p.Glu213Ter
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1139G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.586G>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu213Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-202195236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195236
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195236
    reference: chr 2
allele count: 2
allele frequency: 1.673836265336525e-5
allele num: 119486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.632G>A
  hgvsp: ENSP00000412073.1:p.Gly211Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.290G>A
  hgvsp: ENSP00000393945.1:p.Gly97Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.632G>A
  hgvsp: ENSP00000376086.3:p.Gly211Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1134G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.632G>A
  hgvsp: ENSP00000286190.5:p.Gly211Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.581G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.632G>A
  hgvsp: ENSP00000385098.2:p.Gly211Glu
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5769
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly211Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-202195239-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195239
    reference: chr 2
allele count: 57
allele frequency: 4.770193820506812e-4
allele num: 119492
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.629T>C
  hgvsp: ENSP00000385098.2:p.Met210Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.629T>C
  hgvsp: ENSP00000376086.3:p.Met210Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1131T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.287T>C
  hgvsp: ENSP00000393945.1:p.Met96Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.629T>C
  hgvsp: ENSP00000412073.1:p.Met210Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.629T>C
  hgvsp: ENSP00000286190.5:p.Met210Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.578T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29505
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met210Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-202195240-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195240
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195240
    reference: chr 2
allele count: 1
allele frequency: 8.371283150281276e-6
allele num: 119456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1130A>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.628A>T
  hgvsp: ENSP00000376086.3:p.Met210Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.628A>T
  hgvsp: ENSP00000286190.5:p.Met210Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.628A>T
  hgvsp: ENSP00000412073.1:p.Met210Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.577A>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.628A>T
  hgvsp: ENSP00000385098.2:p.Met210Leu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.286A>T
  hgvsp: ENSP00000393945.1:p.Met96Leu
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37723
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met210Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-202195244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195244
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195244
    reference: chr 2
allele count: 1
allele frequency: 8.373806732540612e-6
allele num: 119420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.624G>A
  hgvsp: ENST00000392257.3:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.573G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.624G>A
  hgvsp: ENST00000286190.5:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.624G>A
  hgvsp: ENST00000439709.1:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1126G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.624G>A
  hgvsp: ENST00000405148.2:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.282G>A
  hgvsp: ENST00000425488.1:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.75e1
  variant carriers: 0
hgvs: c.624G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-202195245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195245
    reference: chr 2
allele count: 5
allele frequency: 4.187253998827569e-5
allele num: 119410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281A>G
  hgvsp: ENSP00000393945.1:p.Glu94Gly
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623A>G
  hgvsp: ENSP00000286190.5:p.Glu208Gly
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623A>G
  hgvsp: ENSP00000385098.2:p.Glu208Gly
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623A>G
  hgvsp: ENSP00000412073.1:p.Glu208Gly
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623A>G
  hgvsp: ENSP00000376086.3:p.Glu208Gly
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu208Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-202195259-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195259
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195259
    reference: chr 2
allele count: 1
allele frequency: 8.395318770253707e-6
allele num: 119114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-14T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-14T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-14T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-14T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-14T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-14T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-14T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-202195260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195260
    reference: chr 2
allele count: 1
allele frequency: 8.395177809866013e-6
allele num: 119116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-15T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-202195265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195265
    reference: chr 2
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-20G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-20G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-20G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-20G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-20G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-20G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-20G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-202195268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195268
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195268
    reference: chr 2
allele count: 4
allele frequency: 3.36479415871734e-5
allele num: 118878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-23C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-23C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-23C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-23C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-23C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-23C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-23C>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15531
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

2-202195270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195270
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195270
    reference: chr 2
allele count: 1
allele frequency: 8.416374899003501e-6
allele num: 118816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-25A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-25A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-25A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-25A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-25A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-25A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-25A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-202195286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195286
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195286
    reference: chr 2
allele count: 1
allele frequency: 8.474719910506958e-6
allele num: 117998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-41C>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-202195290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195290
    reference: chr 2
allele count: 1
allele frequency: 8.48824378236143e-6
allele num: 117810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-45A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-45A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-45A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-45A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-45A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-45A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-45A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16514
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
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genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-202195292-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195292
    reference: chr 2
allele count: 1
allele frequency: 8.517016999965932e-6
allele num: 117412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-47G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-47G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-47G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-47G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-47G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-47G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-47G>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

2-202195293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195293
    reference: chr 2
allele count: 1
allele frequency: 8.508176357479537e-6
allele num: 117534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-48T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-48T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-48T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-48T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-48T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-48T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-48T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-202195297-TTTCAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195291
    reference: chr 2
allele count: 10
allele frequency: 8.534316486592588e-5
allele num: 117174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-58_572-53delTTTGAA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.623-58_623-53delTTTGAA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.281-58_281-53delTTTGAA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.623-58_623-53delTTTGAA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1125-58_1125-53delTTTGAA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.623-58_623-53delTTTGAA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.623-58_623-53delTTTGAA
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18244
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: TTTCAAA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-202195417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195417
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195417
    reference: chr 2
allele count: 1
allele frequency: 8.842045695692155e-6
allele num: 113096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+42A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+42A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+42A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-172A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+42A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+42A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+42A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-202195426-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195425
    reference: chr 2
allele count: 12
allele frequency: 1.052465400199968e-4
allele num: 114018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+32delA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+32delA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+32delA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+32delA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+32delA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+32delA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-182delA
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24580
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: AT
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS

2-202195430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195430
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195430
    reference: chr 2
allele count: 2
allele frequency: 1.744591765526867e-5
allele num: 114640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+29T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+29T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+29T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-185T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+29T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+29T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+29T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37731
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-202195430-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195430
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195429
    reference: chr 2
allele count: 2
allele frequency: 1.744591765526867e-5
allele num: 114640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+28delC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+28delC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+28delC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+28delC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+28delC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-186delC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+28delC
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: AG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-202195431-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195431
    reference: chr 2
allele count: 1
allele frequency: 8.708222303498963e-6
allele num: 114834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+28C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-186C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+28C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+28C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+28C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+28C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+28C>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-202195432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195432
    reference: chr 2
allele count: 5
allele frequency: 4.348279820503009e-5
allele num: 114988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-187C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+27C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+27C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+27C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+27C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+27C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+27C>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27703
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-202195443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195443
    reference: chr 2
allele count: 1
allele frequency: 8.568392912225382e-6
allele num: 116708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+16G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+16G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+16G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+16G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-198G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+16G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+16G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-202195444-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195444
    reference: chr 2
allele count: 2
allele frequency: 1.711127461884636e-5
allele num: 116882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-199T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+15T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+15T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff

2-202195446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195446
    reference: chr 2
allele count: 15
allele frequency: 1.27940499138534e-4
allele num: 117242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+13C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+13C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+13C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-201C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+13C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+13C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+13C>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-202195453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195453
    reference: chr 2
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+6G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+6G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+6G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+6G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+6G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+6G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-208G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 6.75e1
  variant carriers: 0
hgvs: c.622+6G>A
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-202195455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195455
    reference: chr 2
allele count: 2
allele frequency: 1.688134105373331e-5
allele num: 118474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+4C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+4C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+4C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+4C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+4C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-210C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+4C>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 2
hgvs: c.622+4C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-202195456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195456
    reference: chr 2
allele count: 2
allele frequency: 1.686881125487087e-5
allele num: 118562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.622+3A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.280+3A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.622+3A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1124+3A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.622+3A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-211A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.622+3A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31757
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 0
hgvs: c.622+3A>G
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-202195488-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195488
    reference: chr 2
allele count: 15
allele frequency: 1.25087561292905e-4
allele num: 119916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.251C>A
  hgvsp: ENSP00000393945.1:p.Ala84Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.593C>A
  hgvsp: ENSP00000412073.1:p.Ala198Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1095C>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.593C>A
  hgvsp: ENSP00000286190.5:p.Ala198Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.593C>A
  hgvsp: ENSP00000376086.3:p.Ala198Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-243C>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.593C>A
  hgvsp: ENSP00000385098.2:p.Ala198Glu
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18236
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala198Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-202195493-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195493
    reference: chr 2
allele count: 6
allele frequency: 5.001000200040008e-5
allele num: 119976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-248G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.246G>C
  hgvsp: ENSP00000393945.1:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.588G>C
  hgvsp: ENSP00000385098.2:p.Leu196Phe
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1090G>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.588G>C
  hgvsp: ENSP00000412073.1:p.Leu196Phe
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.588G>C
  hgvsp: ENSP00000286190.5:p.Leu196Phe
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.588G>C
  hgvsp: ENSP00000376086.3:p.Leu196Phe
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18317
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48322
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu196Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-202195497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195497
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195497
    reference: chr 2
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.584C>T
  hgvsp: ENSP00000376086.3:p.Ala195Val
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1086C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-252C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.242C>T
  hgvsp: ENSP00000393945.1:p.Ala81Val
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.584C>T
  hgvsp: ENSP00000385098.2:p.Ala195Val
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.584C>T
  hgvsp: ENSP00000412073.1:p.Ala195Val
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.584C>T
  hgvsp: ENSP00000286190.5:p.Ala195Val
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala195Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-202195511-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195511
    reference: chr 2
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-266C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1072C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.570C>G
  hgvsp: ENSP00000376086.3:p.Asn190Lys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.570C>G
  hgvsp: ENSP00000385098.2:p.Asn190Lys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.228C>G
  hgvsp: ENSP00000393945.1:p.Asn76Lys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.570C>G
  hgvsp: ENSP00000412073.1:p.Asn190Lys
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.570C>G
  hgvsp: ENSP00000286190.5:p.Asn190Lys
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn190Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-202195515-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195515
    reference: chr 2
allele count: 10
allele frequency: 8.342649291709075e-5
allele num: 119866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.566A>C
  hgvsp: ENSP00000286190.5:p.Glu189Ala
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.566A>C
  hgvsp: ENSP00000376086.3:p.Glu189Ala
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1068A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.566A>C
  hgvsp: ENSP00000385098.2:p.Glu189Ala
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.566A>C
  hgvsp: ENSP00000412073.1:p.Glu189Ala
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-270A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.224A>C
  hgvsp: ENSP00000393945.1:p.Glu75Ala
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu189Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-202195517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195517
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195517
    reference: chr 2
allele count: 1
allele frequency: 8.345016356232058e-6
allele num: 119832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-272G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1066G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.564G>A
  hgvsp: ENST00000286190.5:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.564G>A
  hgvsp: ENST00000392257.3:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.564G>A
  hgvsp: ENST00000439709.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.222G>A
  hgvsp: ENST00000425488.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.564G>A
  hgvsp: ENST00000405148.2:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu188Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-202195519-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195519
    reference: chr 2
allele count: 1
allele frequency: 8.347663488989432e-6
allele num: 119794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.562T>C
  hgvsp: ENST00000286190.5:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-274T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.220T>C
  hgvsp: ENST00000425488.1:c.220T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.562T>C
  hgvsp: ENST00000439709.1:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1064T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.562T>C
  hgvsp: ENST00000392257.3:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.562T>C
  hgvsp: ENST00000405148.2:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18490
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu188Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-202195529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195529
    reference: chr 2
allele count: 1
allele frequency: 8.376752835530836e-6
allele num: 119378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.552A>G
  hgvsp: ENST00000439709.1:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.552A>G
  hgvsp: ENST00000392257.3:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.552A>G
  hgvsp: ENST00000405148.2:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.210A>G
  hgvsp: ENST00000425488.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1054A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-284A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.552A>G
  hgvsp: ENST00000286190.5:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu184Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-202195529-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195529
    reference: chr 2
allele count: 9
allele frequency: 7.539077551977751e-5
allele num: 119378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.552A>C
  hgvsp: ENSP00000286190.5:p.Glu184Asp
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.552A>C
  hgvsp: ENSP00000376086.3:p.Glu184Asp
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-284A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1054A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.552A>C
  hgvsp: ENSP00000412073.1:p.Glu184Asp
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.210A>C
  hgvsp: ENSP00000393945.1:p.Glu70Asp
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.552A>C
  hgvsp: ENSP00000385098.2:p.Glu184Asp
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu184Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-202195532-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195532
    reference: chr 2
allele count: 1
allele frequency: 8.385603595746822e-6
allele num: 119252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.549A>C
  hgvsp: ENST00000439709.1:c.549A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-287A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.549A>C
  hgvsp: ENST00000392257.3:c.549A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.549A>C
  hgvsp: ENST00000286190.5:c.549A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1051A>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.207A>C
  hgvsp: ENST00000425488.1:c.207A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.549A>C
  hgvsp: ENST00000405148.2:c.549A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala183Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

2-202195534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195534
    reference: chr 2
allele count: 1
allele frequency: 8.401666890711118e-6
allele num: 119024
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.547G>A
  hgvsp: ENSP00000385098.2:p.Ala183Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.547G>A
  hgvsp: ENSP00000286190.5:p.Ala183Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.547G>A
  hgvsp: ENSP00000376086.3:p.Ala183Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-289G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.205G>A
  hgvsp: ENSP00000393945.1:p.Ala69Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.547G>A
  hgvsp: ENSP00000412073.1:p.Ala183Thr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1049G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18452
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala183Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-202195539-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195539
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195539
    reference: chr 2
allele count: 3
allele frequency: 2.532201158059996e-5
allele num: 118474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.542A>G
  hgvsp: ENSP00000412073.1:p.His181Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.542A>G
  hgvsp: ENSP00000385098.2:p.His181Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.542A>G
  hgvsp: ENSP00000376086.3:p.His181Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.200A>G
  hgvsp: ENSP00000393945.1:p.His67Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1044A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.542A>G
  hgvsp: ENSP00000286190.5:p.His181Arg
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-294A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His181Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-202195540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195540
    reference: chr 2
allele count: 2
allele frequency: 1.68827660723933e-5
allele num: 118464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.541C>T
  hgvsp: ENSP00000286190.5:p.His181Tyr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1043C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-295C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.541C>T
  hgvsp: ENSP00000385098.2:p.His181Tyr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.541C>T
  hgvsp: ENSP00000412073.1:p.His181Tyr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.199C>T
  hgvsp: ENSP00000393945.1:p.His67Tyr
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.541C>T
  hgvsp: ENSP00000376086.3:p.His181Tyr
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His181Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-202195544-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195541
    reference: chr 2
allele count: 1
allele frequency: 8.493434575073469e-6
allele num: 117738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.534_536delAGA
  hgvsp: ENSP00000385098.2:p.Glu179del
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.534_536delAGA
  hgvsp: ENSP00000412073.1:p.Glu179del
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.534_536delAGA
  hgvsp: ENSP00000286190.5:p.Glu179del
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.192_194delAGA
  hgvsp: ENSP00000393945.1:p.Glu65del
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-302_572-300delAGA
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.534_536delAGA
  hgvsp: ENSP00000376086.3:p.Glu179del
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1036_1038delAGA
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu179del
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: CTCT
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

2-202195549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195549
    reference: chr 2
allele count: 1
allele frequency: 8.558126797206627e-6
allele num: 116848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.190A>G
  hgvsp: ENSP00000393945.1:p.Lys64Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.532A>G
  hgvsp: ENSP00000412073.1:p.Lys178Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.532A>G
  hgvsp: ENSP00000286190.5:p.Lys178Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.532A>G
  hgvsp: ENSP00000385098.2:p.Lys178Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.532A>G
  hgvsp: ENSP00000376086.3:p.Lys178Glu
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-304A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1034A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys178Glu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-202195551-AGCTCCCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195544
    reference: chr 2
allele count: 1
allele frequency: 8.577800651912849e-6
allele num: 116580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.525-2_529delAGGGAGC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.183-2_187delAGGGAGC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.525-2_529delAGGGAGC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.525-2_529delAGGGAGC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.525-2_529delAGGGAGC
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: c.525-2_529delAGGGAGC
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AGCTCCCT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-202195553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195553
    reference: chr 2
allele count: 1
allele frequency: 8.62083829031535e-6
allele num: 115998
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.528G>A
  hgvsp: ENST00000405148.2:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.186G>A
  hgvsp: ENST00000425488.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.528G>A
  hgvsp: ENST00000439709.1:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.528G>A
  hgvsp: ENST00000286190.5:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1030G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.528G>A
  hgvsp: ENST00000392257.3:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-308G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu176Glu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-202195565-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195565
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195565
    reference: chr 2
allele count: 1
allele frequency: 9.052067492215222e-6
allele num: 110472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-320G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.183-9G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.525-9G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.525-9G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1027-9G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.525-9G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.525-9G>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-202195568-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195568
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 108102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.525-12G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.525-12G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.525-12G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-323G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.525-12G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1027-12G>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.183-12G>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-202195569-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195569
    reference: chr 2
allele count: 1
allele frequency: 9.24624602411421e-6
allele num: 108152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1027-13T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.183-13T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-324T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.525-13T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.525-13T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.525-13T>C
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.525-13T>C
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-202195576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195576
    reference: chr 2
allele count: 2
allele frequency: 1.910183186567592e-5
allele num: 104702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1027-20C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.525-20C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.525-20C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.525-20C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-331C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.183-20C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.525-20C>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-202195580-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202195580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202195579
    reference: chr 2
allele count: 1
allele frequency: 9.754384595875846e-6
allele num: 102518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.525-25delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.525-25delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1027-25delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.572-336delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.525-25delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.525-25delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.183-25delG
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22208
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
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genotype quality: GenotypeQuality
  all individuals: 19332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: AC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

2-202207042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207042
    reference: chr 2
allele count: 2
allele frequency: 1.669003271246412e-5
allele num: 119832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1851C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+51C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+51C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+51C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+51C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4223C>T
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+51C>T
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-202207045-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207044
    reference: chr 2
allele count: 13
allele frequency: 1.081368846595352e-4
allele num: 120218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+47delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+47delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+47delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1847delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4219delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+47delG
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+47delG
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: AC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-202207047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207047
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207047
    reference: chr 2
allele count: 3
allele frequency: 2.496546444085682e-5
allele num: 120166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+46G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+46G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1846G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4218G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+46G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+46G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+46G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9964
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

2-202207051-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207051
    reference: chr 2
allele count: 2
allele frequency: 1.662565671344018e-5
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+42T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+42T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1842T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+42T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+42T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4214T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+42T>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9968
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22448
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-202207052-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207052
    reference: chr 2
allele count: 2
allele frequency: 1.662344570782632e-5
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1841C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+41C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4213C>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+41C>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-202207058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207058
    reference: chr 2
allele count: 16
allele frequency: 1.327844907714779e-4
allele num: 120496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+35A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+35A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+35A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4207A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+35A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1835A>G
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+35A>G
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9972
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS

2-202207059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207059
    reference: chr 2
allele count: 196
allele frequency: 1.626151165684892e-3
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4206G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+34G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+34G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+34G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+34G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+34G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1834G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16763
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10105
  bin: 9.75e1
  variant carriers: 189
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25186
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 5
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

2-202207064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207064
    reference: chr 2
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+29G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+29G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1829G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+29G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4201G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+29G>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+29G>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9965
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-202207067-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202207067
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 202207067
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000494171
  gene symbol: ALS2CR12
  hgvsc: ENST00000494171.1:n.1026+1826T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000286190
  ensembl transcript: ENST00000286190
  gene symbol: ALS2CR12
  hgvsc: ENST00000286190.5:c.524+26T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl transcript: ENST00000448967
  gene symbol: ALS2CR12
  hgvsc: ENST00000448967.1:n.571+26T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000412073
  ensembl transcript: ENST00000439709
  gene symbol: ALS2CR12
  hgvsc: ENST00000439709.1:c.524+26T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000393945
  ensembl transcript: ENST00000425488
  gene symbol: ALS2CR12
  hgvsc: ENST00000425488.1:c.182+4198T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000385098
  ensembl transcript: ENST00000405148
  gene symbol: ALS2CR12
  hgvsc: ENST00000405148.2:c.524+26T>A
  variant of: http://identifiers.org/hgnc/14439
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155749
  ensembl protein: ENSP00000376086
  ensembl transcript: ENST00000392257
  gene symbol: ALS2CR12
  hgvsc: ENST00000392257.3:c.524+26T>A
  variant of: http://identifiers.org/hgnc/14439
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 5613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5775
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.297858533419857e-4
allele num: 15410
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.645498e6

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

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

GenotypeQuality
all individuals: 917
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5775
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
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: 15452
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533507130808158e-5
allele num: 65210
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.652462e6

VQSLOD
type: SiteQuality
SIO_000300: -2.85e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.139e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.5556e1

GenotypeQuality
all individuals: 996
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5781
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 348
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 750
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.384880602732729e-4
allele num: 15662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

FS
type: SiteQuality
SIO_000300: 1.862e0

DP
type: SiteQuality
SIO_000300: 1.670588e6

QD
type: SiteQuality
SIO_000300: 1.364e1

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

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
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GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5779
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 36338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.448964026948011e-4
allele num: 15734
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.154e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

DP
type: SiteQuality
SIO_000300: 1.678197e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 2.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

GenotypeQuality
all individuals: 837
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36279
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.337938902268983e-5
allele num: 15778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.680267e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.373e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
all individuals: 672
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 5809
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65634
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.397e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

DP
type: SiteQuality
SIO_000300: 1.681624e6

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5802
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 328
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5781
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.102312543798178e-3
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.569270135250396e-5
allele num: 65656
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 7.579585649317837e-4
allele num: 15832
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 1.686114e6

GenotypeQuality
all individuals: 584
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.045066991473813e-5
allele num: 65680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15860
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.687819e6

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

FS
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
all individuals: 1527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 9.25e1
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GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520866285436184e-5
allele num: 65752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.291682395872656e-5
allele num: 15894
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.121e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

DP
type: SiteQuality
SIO_000300: 1.691975e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
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variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5779
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 513
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5847
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.88465887674331e-4
allele num: 15918
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.071706936866719e-3
allele num: 10264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.155e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.693815e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

GenotypeQuality
all individuals: 542
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2077
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
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variant carriers: 0

GenotypeQuality
all individuals: 37808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 5878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.72e0

QD
type: SiteQuality
SIO_000300: 1.212e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.698023e6

GenotypeQuality
all individuals: 463
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035914872946963e-5
allele num: 65878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.993e0

DP
type: SiteQuality
SIO_000300: 1.70209e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 5888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 7.5e0
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GenotypeQuality
all individuals: 1443
bin: 2.25e1
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GenotypeQuality
all individuals: 37984
bin: 6.25e1
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GenotypeQuality
all individuals: 1400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.702897e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

GenotypeQuality
all individuals: 339
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
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GenotypeQuality
all individuals: 587
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GenotypeQuality
all individuals: 492
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GenotypeQuality
all individuals: 37403
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GenotypeQuality
all individuals: 2060
bin: 7.75e1
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GenotypeQuality
all individuals: 1994
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5773
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variant carriers: 5

GenotypeQuality
all individuals: 768
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.88651379712398e-4
allele num: 10292
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.827683615819209e-5
allele num: 11328
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.702504e6

FS
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.196e0

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
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variant carriers: 0

GenotypeQuality
all individuals: 2065
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variant carriers: 0

GenotypeQuality
all individuals: 768
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variant carriers: 0

GenotypeQuality
all individuals: 1400
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variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035454103933948e-5
allele num: 65888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.701856e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.335e0

VQSLOD
type: SiteQuality
SIO_000300: -1.819e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
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GenotypeQuality
all individuals: 37930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 56

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.826125330979699e-5
allele num: 11330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 56
allele frequency: 3.488227233088327e-3
allele num: 16054
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 1.802e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.07e1

DP
type: SiteQuality
SIO_000300: 1.701486e6

GenotypeQuality
all individuals: 341
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 1672
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 5815
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GenotypeQuality
all individuals: 179
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GenotypeQuality
all individuals: 1987
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variant carriers: 0

GenotypeQuality
all individuals: 766
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variant carriers: 0

GenotypeQuality
all individuals: 5766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2054
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.827683615819209e-5
allele num: 11328
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

QD
type: SiteQuality
SIO_000300: 1.421e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 1.700561e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5768
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 403
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GenotypeQuality
all individuals: 682
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variant carriers: 0

GenotypeQuality
all individuals: 1793
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variant carriers: 0

GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 1985
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variant carriers: 0

GenotypeQuality
all individuals: 2051
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variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.698325e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 5.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

GenotypeQuality
all individuals: 1405
bin: 8.25e1
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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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.593475685690855e-5
allele num: 65846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

DP
type: SiteQuality
SIO_000300: 1.697525e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5767
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variant carriers: 1

GenotypeQuality
all individuals: 766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.844861135680169e-5
allele num: 11306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 6.285e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

DP
type: SiteQuality
SIO_000300: 1.677985e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1312
bin: 3.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.576e1

VQSLOD
type: SiteQuality
SIO_000300: -1.069e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.678063e6

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1877
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variant carriers: 0

GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 1377
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GenotypeQuality
all individuals: 5436
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GenotypeQuality
all individuals: 427
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.660919e6

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.608e0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5768
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.571080298643913e-5
allele num: 65630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

DP
type: SiteQuality
SIO_000300: 1.651236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 815
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2886
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.33e0

FS
type: SiteQuality
SIO_000300: 2.894e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.628e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.632073e6

GenotypeQuality
all individuals: 5768
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3848
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
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: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

DP
type: SiteQuality
SIO_000300: 1.56443e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.639e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeQuality
all individuals: 308
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.449116471043467e-5
allele num: 15506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.094e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.615e0

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.553167e6

GenotypeQuality
all individuals: 257
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5607
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3322
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538982424820709e-5
allele num: 64978
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

FS
type: SiteQuality
SIO_000300: 3.233e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.550773e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.404e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5956
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537799101925324e-5
allele num: 65028
num of homozygotes: 0

Latino
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: 866
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 1.549599e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.426e0

VQSLOD
type: SiteQuality
SIO_000300: -4.581e-1

QD
type: SiteQuality
SIO_000300: 1.839e1

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

GenotypeQuality
all individuals: 1898
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5782
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 6092
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5445
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.495193556767992e-4
allele num: 15396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.507e0

DP
type: SiteQuality
SIO_000300: 1.55298e6

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.223e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.43e0

GenotypeQuality
all individuals: 914
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3297
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600870873755323e-5
allele num: 62466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15206
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.376647e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.681e-1

FS
type: SiteQuality
SIO_000300: 4.867e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.707e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

GenotypeQuality
all individuals: 4310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.906577693040991e-4
allele num: 62940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.442e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.437198e6

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

GenotypeQuality
all individuals: 1680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2638
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.158360179394858e-5
allele num: 63324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.903e0

DP
type: SiteQuality
SIO_000300: 1.469083e6

QD
type: SiteQuality
SIO_000300: 1.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

GenotypeQuality
all individuals: 2638
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 846
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.421893921046258e-4
allele num: 8258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 6.903e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 1.469083e6

QD
type: SiteQuality
SIO_000300: 1.064e1

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38068
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63430
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210067763794773e-4
allele num: 8264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.233e0

FS
type: SiteQuality
SIO_000300: 5.593e0

DP
type: SiteQuality
SIO_000300: 1.474438e6

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.54e-1

QD
type: SiteQuality
SIO_000300: 5.26e0

GenotypeQuality
all individuals: 2620
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1551
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15494
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.032818532818533e-4
allele num: 8288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.298e0

DP
type: SiteQuality
SIO_000300: 1.479981e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5500031000062e-5
allele num: 64516
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 9.58e0

FS
type: SiteQuality
SIO_000300: 2.597e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.619e-1

DP
type: SiteQuality
SIO_000300: 1.535481e6

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.095112816862175e-5
allele num: 64618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.533e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.411e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

DP
type: SiteQuality
SIO_000300: 1.540057e6

FS
type: SiteQuality
SIO_000300: 1.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 976
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64808
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.528740317977986e-3
allele num: 9812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.515e0

DP
type: SiteQuality
SIO_000300: 1.547741e6

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

QD
type: SiteQuality
SIO_000300: 1.379e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

DP
type: SiteQuality
SIO_000300: 1.571065e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.832e0

FS
type: SiteQuality
SIO_000300: 4.202e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.771e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 6.73e0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 982
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.05548765582987e-5
allele num: 65456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 9.84e0

DP
type: SiteQuality
SIO_000300: 1.575727e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 5.448e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.416e-1

GenotypeQuality
all individuals: 413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2624
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46504
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.244245365186015e-4
allele num: 16074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65494
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.57711e6

QD
type: SiteQuality
SIO_000300: 1.089e1

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 48181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 1

African
type: Population
allele count: 15
allele frequency: 1.491053677932406e-3
allele num: 10060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.953e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.605661e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.045035514583648e-5
allele num: 66170
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.225340031858841e-4
allele num: 16322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.606644e6

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
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: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.841e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.239e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.607314e6

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

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 977
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.607344e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 2.152e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 8.82e0

VQSLOD
type: SiteQuality
SIO_000300: -3.19e-2

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 971
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.75e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.560179025039313e-5
allele num: 66136
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.985668789808917e-4
allele num: 10048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.76522506619594e-4
allele num: 11330
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.605542e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 48439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512310205069264e-5
allele num: 66124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.604933e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.854e1

FS
type: SiteQuality
SIO_000300: 8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.859e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.147037128104254e-5
allele num: 16268
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.798e0

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.603806e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
all individuals: 152
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GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
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GenotypeQuality
all individuals: 47711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-5
allele num: 65920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.596912e6

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
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variant carriers: 0

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

GenotypeQuality
all individuals: 2614
bin: 9.75e1
variant carriers: 9

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

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

GenotypeQuality
all individuals: 135
bin: 5.25e1
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GenotypeQuality
all individuals: 962
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.178942165101334e-5
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.12630601346645e-4
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

DP
type: SiteQuality
SIO_000300: 1.596912e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

QD
type: SiteQuality
SIO_000300: 8.77e0

FS
type: SiteQuality
SIO_000300: 6.136e0

DP
type: SiteQuality
SIO_000300: 1.594985e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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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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bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521653123953863e-5
allele num: 65718
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.112e0

FS
type: SiteQuality
SIO_000300: 3.556e0

MQ
type: SiteQuality
SIO_000300: 5.804e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.591057e6

VQSLOD
type: SiteQuality
SIO_000300: -2.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 7.2e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.691548537591961e-4
allele num: 11146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65430
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.83e0

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

FS
type: SiteQuality
SIO_000300: 1.726e0

DP
type: SiteQuality
SIO_000300: 1.580825e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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
all individuals: 525
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528631263566603e-5
allele num: 65418
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.225099601593625e-5
allele num: 16064
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: 9904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.056e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.581171e6

FS
type: SiteQuality
SIO_000300: 6.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.044862518089724e-5
allele num: 11056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

DP
type: SiteQuality
SIO_000300: 1.567735e6

QD
type: SiteQuality
SIO_000300: 1.887e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

FS
type: SiteQuality
SIO_000300: 2.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 301
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548802775454574e-5
allele num: 64566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.765e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.550679e6

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552457540286273e-5
allele num: 64414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 1.668e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.079e1

QD
type: SiteQuality
SIO_000300: 5.81e0

DP
type: SiteQuality
SIO_000300: 1.544914e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-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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bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64050
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025851456709069e-4
allele num: 9748
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.682e1

DP
type: SiteQuality
SIO_000300: 1.533064e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 192
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640958319658681e-5
allele num: 60940
num of homozygotes: 0

Other
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allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15050
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.621e0

DP
type: SiteQuality
SIO_000300: 1.390785e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.509e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 284
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GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

FS
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.135e0

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 5.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

DP
type: SiteQuality
SIO_000300: 1.315002e6

GenotypeQuality
all individuals: 185
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.768647624204685e-5
allele num: 14774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.313433e6

FS
type: SiteQuality
SIO_000300: 3.006e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.571e1

GenotypeQuality
all individuals: 615
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18922
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.697792869269949e-4
allele num: 5890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730463071918045e-5
allele num: 57788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8974
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

FS
type: SiteQuality
SIO_000300: 4.649e0

VQSLOD
type: SiteQuality
SIO_000300: -2.611e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 3.077e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 1.203438e6

GenotypeQuality
all individuals: 2601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 471
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GenotypeQuality
all individuals: 278
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.133016088828461e-4
allele num: 8826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.325e1

DP
type: SiteQuality
SIO_000300: 1.15254e6

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9977
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4272
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variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.231678778174652e-4
allele num: 16238
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.74e0

FS
type: SiteQuality
SIO_000300: 8.026999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 1.921682e6

GenotypeQuality
all individuals: 2131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
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variant carriers: 0

GenotypeQuality
all individuals: 3212
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GenotypeQuality
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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: 13

GenotypeQuality
all individuals: 3143
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GenotypeQuality
all individuals: 4267
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.758396342535608e-4
allele num: 11374
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.064653503677894e-3
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 6.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.534e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 1.926877e6

GenotypeQuality
all individuals: 750
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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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variant carriers: 0

GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 4163
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.46e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

DP
type: SiteQuality
SIO_000300: 1.933832e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.947036e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

MQ
type: SiteQuality
SIO_000300: 5.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 1.042e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.349072116513977e-4
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.950596e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.519e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
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African
type: Population
allele count: 16
allele frequency: 1.545893719806763e-3
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.504e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 245
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GenotypeQuality
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GenotypeQuality
all individuals: 346
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3090
bin: 8.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 195
allele frequency: 1.193536540580242e-2
allele num: 16338
num of homozygotes: 5

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.34e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.973761e6

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26256
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 478
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.334267040149393e-4
allele num: 8568
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
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: 4.62e-1

QD
type: SiteQuality
SIO_000300: 2.852e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

DP
type: SiteQuality
SIO_000300: 1.982046e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1